estd212 (Uddin et al. 2014)
- Organism:
- Human
- Study Type:
- Control Set
- Submitter:
- Jeff MacDonald
- Description:
- We have genotyped a large population control set (1,000 individuals from our Ontario Population Genomics Platform (OPGP)) using the Affymetrix CytoScan HD microarray comprising 2.7 million probes. Four independent algorithms were applied to detect and assess high confidence CNVs. Reproducibility and validations were quantified using sample replicates and Quantitative-PCR (QPCR), respectively. See Variant Summary counts for estd212 in dbVar Variant Summary.
- Publication(s):
- Uddin et al. 2014
Detailed Information: Download 16575 Variant Regions, Download 71178 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 1,033 | 5,146 | Remapped | NC_000001.11 |
| NC_000002.12 | Chr2 | 841 | 4,206 | Remapped | NC_000002.12 |
| NC_000003.12 | Chr3 | 755 | 3,121 | Remapped | NC_000003.12 |
| NC_000004.12 | Chr4 | 728 | 3,821 | Remapped | NC_000004.12 |
| NC_000005.10 | Chr5 | 823 | 3,357 | Remapped | NC_000005.10 |
| NC_000006.12 | Chr6 | 1,092 | 4,723 | Remapped | NC_000006.12 |
| NC_000007.14 | Chr7 | 886 | 3,231 | Remapped | NC_000007.14 |
| NC_000008.11 | Chr8 | 700 | 3,065 | Remapped | NC_000008.11 |
| NC_000009.12 | Chr9 | 449 | 1,670 | Remapped | NC_000009.12 |
| NC_000010.11 | Chr10 | 786 | 3,065 | Remapped | NC_000010.11 |
| NC_000011.10 | Chr11 | 879 | 3,566 | Remapped | NC_000011.10 |
| NC_000012.12 | Chr12 | 663 | 3,282 | Remapped | NC_000012.12 |
| NC_000013.11 | Chr13 | 405 | 1,533 | Remapped | NC_000013.11 |
| NC_000014.9 | Chr14 | 775 | 2,845 | Remapped | NC_000014.9 |
| NC_000015.10 | Chr15 | 413 | 1,481 | Remapped | NC_000015.10 |
| NC_000016.10 | Chr16 | 708 | 2,348 | Remapped | NC_000016.10 |
| NC_000017.11 | Chr17 | 529 | 2,732 | Remapped | NC_000017.11 |
| NC_000018.10 | Chr18 | 277 | 1,012 | Remapped | NC_000018.10 |
| NC_000019.10 | Chr19 | 411 | 1,654 | Remapped | NC_000019.10 |
| NC_000020.11 | Chr20 | 279 | 1,463 | Remapped | NC_000020.11 |
| NC_000021.9 | Chr21 | 126 | 544 | Remapped | NC_000021.9 |
| NC_000022.11 | Chr22 | 376 | 1,894 | Remapped | NC_000022.11 |
| NC_000023.11 | ChrX | 2,104 | 9,713 | Remapped | NC_000023.11 |
| NC_000024.10 | ChrY | 192 | 236 | Remapped | NC_000024.10 |
| NT_187514.1 | Chr1|NT_187514.1 | 1 | 6 | Remapped | NT_187514.1 |
| NT_187515.1 | Chr1|NT_187515.1 | 2 | 2 | Remapped | NT_187515.1 |
| NT_187516.1 | Chr1|NT_187516.1 | 8 | 41 | Remapped | NT_187516.1 |
| NT_187518.1 | Chr1|NT_187518.1 | 11 | 17 | Remapped | NT_187518.1 |
| NT_187519.1 | Chr1|NT_187519.1 | 5 | 8 | Remapped | NT_187519.1 |
| NT_187646.1 | Chr1|NT_187646.1 | 11 | 17 | Remapped | NT_187646.1 |
| NW_003315905.1 | Chr1|NW_003315905.1 | 1 | 1 | Remapped | NW_003315905.1 |
| NW_003315907.2 | Chr1|NW_003315907.2 | 1 | 4 | Remapped | NW_003315907.2 |
| NW_011332687.1 | Chr1|NW_011332687.1 | 7 | 12 | Remapped | NW_011332687.1 |
| NW_011332688.1 | Chr1|NW_011332688.1 | 7 | 9 | Remapped | NW_011332688.1 |
| NW_014040927.1 | Chr1|NW_014040927.1 | 2 | 2 | Remapped | NW_014040927.1 |
| NW_017852928.1 | Chr1|NW_017852928.1 | 15 | 130 | Remapped | NW_017852928.1 |
| NW_018654707.1 | Chr1|NW_018654707.1 | 56 | 500 | Remapped | NW_018654707.1 |
| NW_011332690.1 | Chr2|NW_011332690.1 | 1 | 4 | Remapped | NW_011332690.1 |
| NW_018654709.1 | Chr2|NW_018654709.1 | 2 | 7 | Remapped | NW_018654709.1 |
| NT_187678.1 | Chr3|NT_187678.1 | 6 | 10 | Remapped | NT_187678.1 |
| NT_187688.1 | Chr3|NT_187688.1 | 6 | 10 | Remapped | NT_187688.1 |
| NT_187689.1 | Chr3|NT_187689.1 | 6 | 10 | Remapped | NT_187689.1 |
| NT_187690.1 | Chr3|NT_187690.1 | 6 | 10 | Remapped | NT_187690.1 |
| NT_187691.1 | Chr3|NT_187691.1 | 6 | 10 | Remapped | NT_187691.1 |
| NT_187532.1 | Chr3|NT_187532.1 | 6 | 10 | Remapped | NT_187532.1 |
| NT_187534.1 | Chr3|NT_187534.1 | 1 | 5 | Remapped | NT_187534.1 |
| NT_187537.1 | Chr3|NT_187537.1 | 1 | 1 | Remapped | NT_187537.1 |
| NT_187538.1 | Chr3|NT_187538.1 | 1 | 4 | Remapped | NT_187538.1 |
| NT_187539.1 | Chr3|NT_187539.1 | 1 | 2 | Remapped | NT_187539.1 |
| NT_187649.1 | Chr3|NT_187649.1 | 6 | 10 | Remapped | NT_187649.1 |
| NW_009646198.1 | Chr3|NW_009646198.1 | 2 | 2 | Remapped | NW_009646198.1 |
| NW_011332691.1 | Chr3|NW_011332691.1 | 1 | 1 | Remapped | NW_011332691.1 |
| NW_012132916.1 | Chr3|NW_012132916.1 | 4 | 8 | Remapped | NW_012132916.1 |
| NW_018654711.1 | Chr3|NW_018654711.1 | 1 | 1 | Remapped | NW_018654711.1 |
| NW_019805488.1 | Chr3|NW_019805488.1 | 3 | 21 | Remapped | NW_019805488.1 |
| NW_019805489.1 | Chr3|NW_019805489.1 | 2 | 9 | Remapped | NW_019805489.1 |
| NW_019805492.1 | Chr3|NW_019805492.1 | 1 | 1 | Remapped | NW_019805492.1 |
| NT_187679.1 | Chr4|NT_187679.1 | 2 | 3 | Remapped | NT_187679.1 |
| NT_187540.1 | Chr4|NT_187540.1 | 1 | 1 | Remapped | NT_187540.1 |
| NT_187542.1 | Chr4|NT_187542.1 | 1 | 1 | Remapped | NT_187542.1 |
| NT_187543.1 | Chr4|NT_187543.1 | 2 | 3 | Remapped | NT_187543.1 |
| NT_187545.1 | Chr4|NT_187545.1 | 3 | 3 | Remapped | NT_187545.1 |
| NT_187650.1 | Chr4|NT_187650.1 | 3 | 4 | Remapped | NT_187650.1 |
| NW_003315914.1 | Chr4|NW_003315914.1 | 4 | 8 | Remapped | NW_003315914.1 |
| NW_003315915.1 | Chr4|NW_003315915.1 | 12 | 93 | Remapped | NW_003315915.1 |
| NW_017363814.1 | Chr4|NW_017363814.1 | 3 | 3 | Remapped | NW_017363814.1 |
| NT_187546.1 | Chr5|NT_187546.1 | 7 | 12 | Remapped | NT_187546.1 |
| NT_187549.1 | Chr5|NT_187549.1 | 1 | 3 | Remapped | NT_187549.1 |
| NT_187550.1 | Chr5|NT_187550.1 | 1 | 1 | Remapped | NT_187550.1 |
| NT_187651.1 | Chr5|NT_187651.1 | 1 | 1 | Remapped | NT_187651.1 |
| NT_187652.1 | Chr5|NT_187652.1 | 7 | 12 | Remapped | NT_187652.1 |
| NW_003315917.2 | Chr5|NW_003315917.2 | 3 | 3 | Remapped | NW_003315917.2 |
| NW_003315918.1 | Chr5|NW_003315918.1 | 1 | 1 | Remapped | NW_003315918.1 |
| NW_003315919.1 | Chr5|NW_003315919.1 | 1 | 1 | Remapped | NW_003315919.1 |
| NW_003315920.1 | Chr5|NW_003315920.1 | 4 | 6 | Remapped | NW_003315920.1 |
| NW_003571036.1 | Chr5|NW_003571036.1 | 1 | 1 | Remapped | NW_003571036.1 |
| NW_009646199.1 | Chr5|NW_009646199.1 | 1 | 1 | Remapped | NW_009646199.1 |
| NW_016107297.1 | Chr5|NW_016107297.1 | 2 | 2 | Remapped | NW_016107297.1 |
| NW_016107298.1 | Chr5|NW_016107298.1 | 3 | 7 | Remapped | NW_016107298.1 |
| NT_187552.1 | Chr6|NT_187552.1 | 1 | 1 | Remapped | NT_187552.1 |
| NT_187556.1 | Chr6|NT_187556.1 | 3 | 8 | Remapped | NT_187556.1 |
| NW_012132918.1 | Chr6|NW_012132918.1 | 1 | 1 | Remapped | NW_012132918.1 |
| NW_018654713.1 | Chr6|NW_018654713.1 | 3 | 6 | Remapped | NW_018654713.1 |
| NT_187558.1 | Chr7|NT_187558.1 | 14 | 120 | Remapped | NT_187558.1 |
| NT_187562.1 | Chr7|NT_187562.1 | 68 | 365 | Remapped | NT_187562.1 |
| NT_187564.1 | Chr7|NT_187564.1 | 10 | 27 | Remapped | NT_187564.1 |
| NT_187653.1 | Chr7|NT_187653.1 | 14 | 120 | Remapped | NT_187653.1 |
| NW_012132919.1 | Chr7|NW_012132919.1 | 3 | 3 | Remapped | NW_012132919.1 |
| NW_017852930.1 | Chr7|NW_017852930.1 | 1 | 1 | Remapped | NW_017852930.1 |
| NW_018654714.1 | Chr7|NW_018654714.1 | 3 | 3 | Remapped | NW_018654714.1 |
| NW_019805493.1 | Chr7|NW_019805493.1 | 1 | 1 | Remapped | NW_019805493.1 |
| NT_187680.1 | Chr8|NT_187680.1 | 9 | 31 | Remapped | NT_187680.1 |
| NT_187565.1 | Chr8|NT_187565.1 | 2 | 3 | Remapped | NT_187565.1 |
| NT_187567.1 | Chr8|NT_187567.1 | 1 | 1 | Remapped | NT_187567.1 |
| NT_187568.1 | Chr8|NT_187568.1 | 3 | 5 | Remapped | NT_187568.1 |
| NT_187572.1 | Chr8|NT_187572.1 | 1 | 1 | Remapped | NT_187572.1 |
| NT_187576.1 | Chr8|NT_187576.1 | 18 | 42 | Remapped | NT_187576.1 |
| NT_187577.1 | Chr8|NT_187577.1 | 1 | 1 | Remapped | NT_187577.1 |
| NT_187654.1 | Chr8|NT_187654.1 | 6 | 7 | Remapped | NT_187654.1 |
| NW_017852931.1 | Chr8|NW_017852931.1 | 4 | 10 | Remapped | NW_017852931.1 |
| NW_018654717.1 | Chr8|NW_018654717.1 | 56 | 167 | Remapped | NW_018654717.1 |
| NW_019805494.1 | Chr8|NW_019805494.1 | 1 | 1 | Remapped | NW_019805494.1 |
| NT_187578.1 | Chr9|NT_187578.1 | 9 | 106 | Remapped | NT_187578.1 |
| NW_003315928.1 | Chr9|NW_003315928.1 | 3 | 36 | Remapped | NW_003315928.1 |
| NW_003315934.1 | Chr10|NW_003315934.1 | 4 | 5 | Remapped | NW_003315934.1 |
| NW_013171807.1 | Chr10|NW_013171807.1 | 1 | 2 | Remapped | NW_013171807.1 |
| NT_187657.1 | Chr11|NT_187657.1 | 1 | 3 | Remapped | NT_187657.1 |
| NT_187581.1 | Chr11|NT_187581.1 | 1 | 1 | Remapped | NT_187581.1 |
| NT_187583.1 | Chr11|NT_187583.1 | 14 | 34 | Remapped | NT_187583.1 |
| NT_187584.1 | Chr11|NT_187584.1 | 2 | 4 | Remapped | NT_187584.1 |
| NT_187585.1 | Chr11|NT_187585.1 | 1 | 1 | Remapped | NT_187585.1 |
| NW_003871073.1 | Chr11|NW_003871073.1 | 2 | 2 | Remapped | NW_003871073.1 |
| NW_011332695.1 | Chr11|NW_011332695.1 | 14 | 34 | Remapped | NW_011332695.1 |
| NW_017363816.1 | Chr11|NW_017363816.1 | 1 | 2 | Remapped | NW_017363816.1 |
| NW_019805495.1 | Chr11|NW_019805495.1 | 40 | 134 | Remapped | NW_019805495.1 |
| NW_019805496.1 | Chr11|NW_019805496.1 | 1 | 1 | Remapped | NW_019805496.1 |
| NW_019805497.1 | Chr11|NW_019805497.1 | 1 | 1 | Remapped | NW_019805497.1 |
| NT_187658.1 | Chr12|NT_187658.1 | 5 | 54 | Remapped | NT_187658.1 |
| NT_187587.1 | Chr12|NT_187587.1 | 15 | 74 | Remapped | NT_187587.1 |
| NT_187588.1 | Chr12|NT_187588.1 | 2 | 2 | Remapped | NT_187588.1 |
| NW_003315942.2 | Chr12|NW_003315942.2 | 1 | 1 | Remapped | NW_003315942.2 |
| NW_003571049.1 | Chr12|NW_003571049.1 | 5 | 14 | Remapped | NW_003571049.1 |
| NW_003571050.1 | Chr12|NW_003571050.1 | 1 | 1 | Remapped | NW_003571050.1 |
| NW_011332696.1 | Chr12|NW_011332696.1 | 4 | 21 | Remapped | NW_011332696.1 |
| NW_013171809.1 | Chr12|NW_013171809.1 | 1 | 1 | Remapped | NW_013171809.1 |
| NW_015148967.1 | Chr12|NW_015148967.1 | 2 | 2 | Remapped | NW_015148967.1 |
| NW_018654718.1 | Chr12|NW_018654718.1 | 31 | 100 | Remapped | NW_018654718.1 |
| NT_187593.1 | Chr13|NT_187593.1 | 1 | 1 | Remapped | NT_187593.1 |
| NW_011332698.1 | Chr13|NW_011332698.1 | 2 | 21 | Remapped | NW_011332698.1 |
| NT_187598.1 | Chr14|NT_187598.1 | 1 | 1 | Remapped | NT_187598.1 |
| NT_187599.1 | Chr14|NT_187599.1 | 2 | 12 | Remapped | NT_187599.1 |
| NT_187600.1 | Chr14|NT_187600.1 | 81 | 317 | Remapped | NT_187600.1 |
| NT_187601.1 | Chr14|NT_187601.1 | 1 | 1 | Remapped | NT_187601.1 |
| NW_018654722.1 | Chr14|NW_018654722.1 | 9 | 33 | Remapped | NW_018654722.1 |
| NT_187660.1 | Chr15|NT_187660.1 | 14 | 16 | Remapped | NT_187660.1 |
| NT_187604.1 | Chr15|NT_187604.1 | 1 | 35 | Remapped | NT_187604.1 |
| NT_187605.1 | Chr15|NT_187605.1 | 1 | 2 | Remapped | NT_187605.1 |
| NW_003315943.1 | Chr15|NW_003315943.1 | 2 | 2 | Remapped | NW_003315943.1 |
| NW_003315944.2 | Chr15|NW_003315944.2 | 1 | 1 | Remapped | NW_003315944.2 |
| NW_011332701.1 | Chr15|NW_011332701.1 | 14 | 16 | Remapped | NW_011332701.1 |
| NT_187607.1 | Chr16|NT_187607.1 | 28 | 64 | Remapped | NT_187607.1 |
| NT_187609.1 | Chr16|NT_187609.1 | 1 | 1 | Remapped | NT_187609.1 |
| NW_003315945.1 | Chr16|NW_003315945.1 | 2 | 14 | Remapped | NW_003315945.1 |
| NW_012132921.1 | Chr16|NW_012132921.1 | 1 | 1 | Remapped | NW_012132921.1 |
| NW_013171813.1 | Chr16|NW_013171813.1 | 2 | 16 | Remapped | NW_013171813.1 |
| NW_017852933.1 | Chr16|NW_017852933.1 | 6 | 6 | Remapped | NW_017852933.1 |
| NW_018654723.1 | Chr16|NW_018654723.1 | 2 | 8 | Remapped | NW_018654723.1 |
| NW_019805500.1 | Chr16|NW_019805500.1 | 4 | 120 | Remapped | NW_019805500.1 |
| NT_187661.1 | Chr17|NT_187661.1 | 18 | 203 | Remapped | NT_187661.1 |
| NT_187662.1 | Chr17|NT_187662.1 | 1 | 1 | Remapped | NT_187662.1 |
| NT_187663.1 | Chr17|NT_187663.1 | 148 | 565 | Remapped | NT_187663.1 |
| NT_187664.1 | Chr17|NT_187664.1 | 2 | 2 | Remapped | NT_187664.1 |
| NW_003871093.1 | Chr17|NW_003871093.1 | 19 | 406 | Remapped | NW_003871093.1 |
| NT_187612.1 | Chr17|NT_187612.1 | 1 | 1 | Remapped | NT_187612.1 |
| NT_187613.1 | Chr17|NT_187613.1 | 7 | 8 | Remapped | NT_187613.1 |
| NT_187614.1 | Chr17|NT_187614.1 | 63 | 296 | Remapped | NT_187614.1 |
| NT_187615.1 | Chr17|NT_187615.1 | 1 | 1 | Remapped | NT_187615.1 |
| NW_003315952.3 | Chr17|NW_003315952.3 | 1 | 1 | Remapped | NW_003315952.3 |
| NW_003315953.2 | Chr17|NW_003315953.2 | 1 | 1 | Remapped | NW_003315953.2 |
| NW_003315954.1 | Chr17|NW_003315954.1 | 1 | 1 | Remapped | NW_003315954.1 |
| NW_003871091.1 | Chr17|NW_003871091.1 | 16 | 36 | Remapped | NW_003871091.1 |
| NW_003871092.1 | Chr17|NW_003871092.1 | 2 | 2 | Remapped | NW_003871092.1 |
| NW_017363817.1 | Chr17|NW_017363817.1 | 4 | 9 | Remapped | NW_017363817.1 |
| NT_187617.1 | Chr18|NT_187617.1 | 3 | 14 | Remapped | NT_187617.1 |
| NW_013171814.1 | Chr18|NW_013171814.1 | 2 | 5 | Remapped | NW_013171814.1 |
| NW_014040928.1 | Chr18|NW_014040928.1 | 1 | 1 | Remapped | NW_014040928.1 |
| NW_019805503.1 | Chr18|NW_019805503.1 | 1 | 7 | Remapped | NW_019805503.1 |
| NT_187693.1 | Chr19|NT_187693.1 | 66 | 187 | Remapped | NT_187693.1 |
| NW_003571061.2 | Chr19|NW_003571061.2 | 23 | 69 | Remapped | NW_003571061.2 |
| NW_003571057.2 | Chr19|NW_003571057.2 | 3 | 5 | Remapped | NW_003571057.2 |
| NW_003571058.2 | Chr19|NW_003571058.2 | 3 | 5 | Remapped | NW_003571058.2 |
| NW_003571059.2 | Chr19|NW_003571059.2 | 3 | 5 | Remapped | NW_003571059.2 |
| NW_003571060.1 | Chr19|NW_003571060.1 | 18 | 60 | Remapped | NW_003571060.1 |
| NW_003571056.2 | Chr19|NW_003571056.2 | 3 | 5 | Remapped | NW_003571056.2 |
| NW_003571055.2 | Chr19|NW_003571055.2 | 14 | 55 | Remapped | NW_003571055.2 |
| NT_187620.1 | Chr19|NT_187620.1 | 1 | 3 | Remapped | NT_187620.1 |
| NW_003315962.1 | Chr19|NW_003315962.1 | 5 | 7 | Remapped | NW_003315962.1 |
| NW_003315965.1 | Chr19|NW_003315965.1 | 1 | 1 | Remapped | NW_003315965.1 |
| NW_003571054.1 | Chr19|NW_003571054.1 | 28 | 110 | Remapped | NW_003571054.1 |
| NW_014040929.1 | Chr19|NW_014040929.1 | 7 | 60 | Remapped | NW_014040929.1 |
| NT_187623.1 | Chr20|NT_187623.1 | 1 | 3 | Remapped | NT_187623.1 |
| NT_187624.1 | Chr20|NT_187624.1 | 2 | 78 | Remapped | NT_187624.1 |
| NT_187625.1 | Chr20|NT_187625.1 | 1 | 1 | Remapped | NT_187625.1 |
| NW_003315967.2 | Chr21|NW_003315967.2 | 1 | 1 | Remapped | NW_003315967.2 |
| NW_003315968.2 | Chr21|NW_003315968.2 | 1 | 1 | Remapped | NW_003315968.2 |
| NT_187682.1 | Chr22|NT_187682.1 | 7 | 11 | Remapped | NT_187682.1 |
| NW_015148969.1 | Chr22|NW_015148969.1 | 26 | 68 | Remapped | NW_015148969.1 |
| NT_187629.1 | Chr22|NT_187629.1 | 3 | 6 | Remapped | NT_187629.1 |
| NT_187633.1 | Chr22|NT_187633.1 | 21 | 308 | Remapped | NT_187633.1 |
| NW_017363820.1 | ChrX|NW_017363820.1 | 7 | 19 | Remapped | NW_017363820.1 |
| NT_187635.1 | ChrX|NT_187635.1 | 1 | 1 | Remapped | NT_187635.1 |
| NW_018654726.1 | ChrY|NW_018654726.1 | 2 | 2 | Remapped | NW_018654726.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 1,051 | 5,172 | Submitted | NC_000001.10 |
| NC_000002.11 | Chr2 | 845 | 4,239 | Submitted | NC_000002.11 |
| NC_000003.11 | Chr3 | 753 | 3,119 | Submitted | NC_000003.11 |
| NC_000004.11 | Chr4 | 728 | 3,821 | Submitted | NC_000004.11 |
| NC_000005.9 | Chr5 | 823 | 3,357 | Submitted | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,094 | 4,725 | Submitted | NC_000006.11 |
| NC_000007.13 | Chr7 | 944 | 3,568 | Submitted | NC_000007.13 |
| NC_000008.10 | Chr8 | 702 | 3,067 | Submitted | NC_000008.10 |
| NC_000009.11 | Chr9 | 450 | 1,671 | Submitted | NC_000009.11 |
| NC_000010.10 | Chr10 | 792 | 3,073 | Submitted | NC_000010.10 |
| NC_000011.9 | Chr11 | 881 | 3,568 | Submitted | NC_000011.9 |
| NC_000012.11 | Chr12 | 663 | 3,282 | Submitted | NC_000012.11 |
| NC_000013.10 | Chr13 | 405 | 1,533 | Submitted | NC_000013.10 |
| NC_000014.8 | Chr14 | 787 | 2,995 | Submitted | NC_000014.8 |
| NC_000015.9 | Chr15 | 413 | 1,481 | Submitted | NC_000015.9 |
| NC_000016.9 | Chr16 | 708 | 2,348 | Submitted | NC_000016.9 |
| NC_000017.10 | Chr17 | 572 | 2,823 | Submitted | NC_000017.10 |
| NC_000018.9 | Chr18 | 277 | 1,012 | Submitted | NC_000018.9 |
| NC_000019.9 | Chr19 | 451 | 1,745 | Submitted | NC_000019.9 |
| NC_000020.10 | Chr20 | 278 | 1,462 | Submitted | NC_000020.10 |
| NC_000021.8 | Chr21 | 126 | 544 | Submitted | NC_000021.8 |
| NC_000022.10 | Chr22 | 386 | 1,909 | Submitted | NC_000022.10 |
| NC_000023.10 | ChrX | 2,254 | 10,428 | Submitted | NC_000023.10 |
| NC_000024.9 | ChrY | 192 | 236 | Submitted | NC_000024.9 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000001.10 | Chr1 | 1,051 | 853 | 51 | 12 | 18 | 117 | 5,172 | 4,309 | 86 | 17 | 26 | 734 |
| NC_000002.11 | Chr2 | 845 | 796 | 29 | 13 | 4 | 3 | 4,239 | 4,035 | 127 | 33 | 33 | 11 |
| NC_000003.11 | Chr3 | 753 | 709 | 20 | 2 | 0 | 22 | 3,119 | 3,027 | 26 | 3 | 0 | 63 |
| NC_000004.11 | Chr4 | 728 | 689 | 11 | 1 | 0 | 27 | 3,821 | 3,692 | 14 | 2 | 0 | 113 |
| NC_000005.9 | Chr5 | 823 | 791 | 7 | 0 | 0 | 25 | 3,357 | 3,257 | 62 | 0 | 0 | 38 |
| NC_000006.11 | Chr6 | 1,094 | 1,064 | 12 | 8 | 0 | 10 | 4,725 | 4,653 | 15 | 39 | 0 | 18 |
| NC_000007.13 | Chr7 | 944 | 836 | 58 | 9 | 0 | 41 | 3,568 | 3,082 | 295 | 9 | 0 | 182 |
| NC_000008.10 | Chr8 | 702 | 596 | 10 | 0 | 1 | 95 | 3,067 | 2,793 | 12 | 0 | 1 | 261 |
| NC_000009.11 | Chr9 | 450 | 437 | 0 | 0 | 0 | 13 | 1,671 | 1,528 | 0 | 0 | 0 | 143 |
| NC_000010.10 | Chr10 | 792 | 647 | 31 | 103 | 6 | 5 | 3,073 | 2,631 | 72 | 355 | 8 | 7 |
| NC_000011.9 | Chr11 | 881 | 796 | 9 | 11 | 2 | 63 | 3,568 | 3,306 | 45 | 35 | 2 | 180 |
| NC_000012.11 | Chr12 | 663 | 596 | 1 | 0 | 0 | 66 | 3,282 | 3,012 | 1 | 0 | 0 | 269 |
| NC_000013.10 | Chr13 | 405 | 400 | 0 | 2 | 0 | 3 | 1,533 | 1,509 | 0 | 2 | 0 | 22 |
| NC_000014.8 | Chr14 | 787 | 389 | 264 | 28 | 12 | 94 | 2,995 | 2,037 | 364 | 80 | 150 | 364 |
| NC_000015.9 | Chr15 | 413 | 373 | 10 | 13 | 0 | 17 | 1,481 | 1,396 | 11 | 20 | 0 | 54 |
| NC_000016.9 | Chr16 | 708 | 625 | 1 | 36 | 0 | 46 | 2,348 | 2,073 | 1 | 44 | 0 | 230 |
| NC_000017.10 | Chr17 | 572 | 339 | 7 | 6 | 0 | 220 | 2,823 | 1,568 | 12 | 8 | 0 | 1,235 |
| NC_000018.9 | Chr18 | 277 | 267 | 0 | 3 | 0 | 7 | 1,012 | 977 | 0 | 8 | 0 | 27 |
| NC_000019.9 | Chr19 | 451 | 393 | 14 | 1 | 0 | 43 | 1,745 | 1,536 | 26 | 1 | 0 | 182 |
| NC_000020.10 | Chr20 | 278 | 271 | 1 | 2 | 0 | 4 | 1,462 | 1,376 | 2 | 2 | 0 | 82 |
| NC_000021.8 | Chr21 | 126 | 106 | 18 | 0 | 0 | 2 | 544 | 520 | 22 | 0 | 0 | 2 |
| NC_000022.10 | Chr22 | 386 | 301 | 29 | 10 | 0 | 46 | 1,909 | 1,474 | 35 | 23 | 0 | 377 |
| NC_000023.10 | ChrX | 2,254 | 1,687 | 321 | 59 | 150 | 37 | 10,428 | 7,715 | 1,325 | 183 | 715 | 490 |
| NC_000024.9 | ChrY | 192 | 189 | 1 | 0 | 0 | 2 | 236 | 233 | 1 | 0 | 0 | 2 |
Samplesets
Number of Samplesets: 1
- Name:
- Ontario Population Genomics Platform (OPGP)
- Sampleset Type:
- Control
- Description:
- Population controls were recruited from the Ontario Familial Breast Cancer Registry (OFBCR)16 and Ontario Familial Colorectal Cancer Registry (OFCCR) and family history, risk factor information and biospecimens were collected. In the second phase, samples were recruited through the collaboration with the Institute of Social Research at York University in Ontario. Individuals between the ages of 20 and 79 were invited to participate by answering a telephone interview and providing blood.
- Size:
- 873
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported
| Sample ID | Cell Type | Subject ID | Sex | Ethnicity | Subject Phenotype |
|---|---|---|---|---|---|
| 400213DB | B-Lymphocyte | 400213DB | Female | European | Not reported |
| 400124FR | B-Lymphocyte | 400124FR | Male | European | Not reported |
| 400061DE | B-Lymphocyte | 400061DE | Female | European | Not reported |
| 400227MM | B-Lymphocyte | 400227MM | Female | European | Not reported |
| 400201PK | B-Lymphocyte | 400201PK | Male | Admixed | Not reported |
| 400128MJ | B-Lymphocyte | 400128MJ | Female | European | Not reported |
| 400164SS | B-Lymphocyte | 400164SS | Male | European | Not reported |
| 400014SL | B-Lymphocyte | 400014SL | Female | European | Not reported |
| 400158FB | B-Lymphocyte | 400158FB | Male | European | Not reported |
| 400209BS | B-Lymphocyte | 400209BS | Female | European | Not reported |
| 400225CJ | B-Lymphocyte | 400225CJ | Male | European | Not reported |
| 400113LD | B-Lymphocyte | 400113LD | Female | European | Not reported |
| 400076LC | B-Lymphocyte | 400076LC | Female | European | Not reported |
| 400063BR | B-Lymphocyte | 400063BR | Female | European | Not reported |
| 400155CW | B-Lymphocyte | 400155CW | Male | European | Not reported |
| 400177SJ | B-Lymphocyte | 400177SJ | Male | European | Not reported |
| 400066MA | B-Lymphocyte | 400066MA | Female | European | Not reported |
| 400141CC | B-Lymphocyte | 400141CC | Female | European | Not reported |
| 400038CK | B-Lymphocyte | 400038CK | Male | European | Not reported |
| 400148MS | B-Lymphocyte | 400148MS | Female | European | Not reported |
| 400173KP | B-Lymphocyte | 400173KP | Female | European | Not reported |
| 400084DM | B-Lymphocyte | 400084DM | Female | European | Not reported |
| 400032RC | B-Lymphocyte | 400032RC | Female | European | Not reported |
| 400199SA | B-Lymphocyte | 400199SA | Male | European | Not reported |
| 400091BS | B-Lymphocyte | 400091BS | Female | European | Not reported |
| 400106PC | B-Lymphocyte | 400106PC | Male | European | Not reported |
| 400218WK | B-Lymphocyte | 400218WK | Female | European | Not reported |
| 400134WK | B-Lymphocyte | 400134WK | Male | European | Not reported |
| 400022WA | B-Lymphocyte | 400022WA | Female | European | Not reported |
| 400051MR | B-Lymphocyte | 400051MR | Male | European | Not reported |
| 4000657TM | B-Lymphocyte | 4000657TM | Female | European | Not reported |
| 400186WC | B-Lymphocyte | 400186WC | Female | European | Not reported |
| 400204SC | B-Lymphocyte | 400204SC | Male | European | Not reported |
| 400033KC | B-Lymphocyte | 400033KC | Female | European | Not reported |
| 400047DS | B-Lymphocyte | 400047DS | Female | European | Not reported |
| 400221VM | B-Lymphocyte | 400221VM | Female | European | Not reported |
| 400021ME | B-Lymphocyte | 400021ME | Male | European | Not reported |
| 400177CG | B-Lymphocyte | 400177CG | Male | European | Not reported |
| 400123WN | B-Lymphocyte | 400123WN | Male | European | Not reported |
| 400152MR | B-Lymphocyte | 400152MR | Male | European | Not reported |
| 400072GR | B-Lymphocyte | 400072GR | Male | European | Not reported |
| 400211BJ | B-Lymphocyte | 400211BJ | Female | European | Not reported |
| 400107MJ | B-Lymphocyte | 400107MJ | Male | European | Not reported |
| 400050RL | B-Lymphocyte | 400050RL | Female | European | Not reported |
| 400230TB | B-Lymphocyte | 400230TB | Male | European | Not reported |
| 400140WM | B-Lymphocyte | 400140WM | Female | European | Not reported |
| 400132HN | B-Lymphocyte | 400132HN | Female | European | Not reported |
| 400077EB | B-Lymphocyte | 400077EB | Female | European | Not reported |
| 400059SV | B-Lymphocyte | 400059SV | Female | European | Not reported |
| 400171BJ | B-Lymphocyte | 400171BJ | Male | European | Not reported |
| 400121PL | B-Lymphocyte | 400121PL | Female | European | Not reported |
| 400191MP | B-Lymphocyte | 400191MP | Male | European | Not reported |
| 400002HK | B-Lymphocyte | 400002HK | Female | European | Not reported |
| 400041LJ | B-Lymphocyte | 400041LJ | Male | European | Not reported |
| 400012CJ | B-Lymphocyte | 400012CJ | Female | European | Not reported |
| 400043HC | B-Lymphocyte | 400043HC | Female | Asian | Not reported |
| 400135DR | B-Lymphocyte | 400135DR | Male | European | Not reported |
| 400127MD | B-Lymphocyte | 400127MD | Male | European | Not reported |
| 400044HS | B-Lymphocyte | 400044HS | Female | European | Not reported |
| 400103BN | B-Lymphocyte | 400103BN | Female | European | Not reported |
| 400073HT | B-Lymphocyte | 400073HT | Male | European | Not reported |
| 400109LJ | B-Lymphocyte | 400109LJ | Male | European | Not reported |
| 400131CM | B-Lymphocyte | 400131CM | Female | European | Not reported |
| 400207HN | B-Lymphocyte | 400207HN | Male | European | Not reported |
| 400203NA | B-Lymphocyte | 400203NA | Male | Asian | Not reported |
| 400108BJ | B-Lymphocyte | 400108BJ | Female | European | Not reported |
| 400206SC | B-Lymphocyte | 400206SC | Male | European | Not reported |
| 400030WD | B-Lymphocyte | 400030WD | Female | European | Not reported |
| 400145BL | B-Lymphocyte | 400145BL | Female | European | Not reported |
| 400136DM | B-Lymphocyte | 400136DM | Female | European | Not reported |
| 400138LA | B-Lymphocyte | 400138LA | Female | European | Not reported |
| 400150SS | B-Lymphocyte | 400150SS | Female | European | Not reported |
| 400006DK | B-Lymphocyte | 400006DK | Female | European | Not reported |
| 400205SP | B-Lymphocyte | 400205SP | Male | European | Not reported |
| 400007RG | B-Lymphocyte | 400007RG | Female | European | Not reported |
| 400070PC | B-Lymphocyte | 400070PC | Female | European | Not reported |
| 400075MR | B-Lymphocyte | 400075MR | Male | European | Not reported |
| 400064WJ | B-Lymphocyte | 400064WJ | Female | European | Not reported |
| 4000046CJ | B-Lymphocyte | 4000046CJ | Female | European | Not reported |
| 400101EH | B-Lymphocyte | 400101EH | Female | European | Not reported |
| 400079AP | B-Lymphocyte | 400079AP | Female | European | Not reported |
| 400122PL | B-Lymphocyte | 400122PL | Male | European | Not reported |
| 400198MD | B-Lymphocyte | 400198MD | Male | European | Not reported |
| 400156WT | B-Lymphocyte | 400156WT | Male | European | Not reported |
| 400053LE | B-Lymphocyte | 400053LE | Female | European | Not reported |
| 400130HA | B-Lymphocyte | 400130HA | Female | European | Not reported |
| 400105BB | B-Lymphocyte | 400105BB | Female | European | Not reported |
| 400069CN | B-Lymphocyte | 400069CN | Female | European | Not reported |
| 400110MD | B-Lymphocyte | 400110MD | Male | European | Not reported |
| 400178RH | B-Lymphocyte | 400178RH | Female | European | Not reported |
| 400013TA | B-Lymphocyte | 400013TA | Male | European | Not reported |
| 400082SD | B-Lymphocyte | 400082SD | Female | European | Not reported |
| 400060MC | B-Lymphocyte | 400060MC | Female | European | Not reported |
| 400168HC | B-Lymphocyte | 400168HC | Female | European | Not reported |
| 400114GR | B-Lymphocyte | 400114GR | Female | European | Not reported |
| 400068PW | B-Lymphocyte | 400068PW | Female | European | Not reported |
| 400083TG | B-Lymphocyte | 400083TG | Male | European | Not reported |
| 400040CN | B-Lymphocyte | 400040CN | Male | European | Not reported |
| 400093BL | B-Lymphocyte | 400093BL | Female | European | Not reported |
| 400094RS | B-Lymphocyte | 400094RS | Male | European | Not reported |
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Data | Number of Variant Calls |
|---|---|---|---|---|---|---|
| 1 | Discovery | SNP array | Probe signal intensity | Affymetrix CytoScan HD 2.7M array, [CytoScanHD_Array] Affymetrix CytoScan HD Array | GEO | 71,178 |