esv2664461
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,148
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 124 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2664461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| esv2664461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5408771 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv5451038 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
| essv5466599 | deletion | SAMN00001176 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,261 |
| essv5487383 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv5578158 | deletion | SAMN00001160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,151 |
| essv5590170 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
| essv5630505 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv5640782 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
| essv5679475 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
| essv5689814 | deletion | SAMN00001193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,179 |
| essv5693432 | deletion | SAMN00001159 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv5727940 | deletion | SAMN00001165 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,213 |
| essv5846970 | deletion | SAMN00001162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,432 |
| essv5941997 | deletion | SAMN00001194 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,133 |
| essv5960756 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
| essv6005964 | deletion | SAMN00001181 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,016 |
| essv6008701 | deletion | SAMN00001119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 912 |
| essv6082560 | deletion | SAMN00001163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,404 |
| essv6313210 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv6339072 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv6367835 | deletion | SAMN00001191 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,461 |
| essv6407164 | deletion | SAMN00001102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,259 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5408771 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5451038 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5466599 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5487383 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5578158 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5590170 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5630505 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5640782 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5679475 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5689814 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5693432 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5727940 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5846970 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5941997 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5960756 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6005964 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6008701 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6082560 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6313210 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6339072 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6367835 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv6407164 | Remapped | Perfect | NC_000016.10:g.(54 282033_54282404)_( 54291810_54292180) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 54,282,033 | 54,282,404 | 54,291,810 | 54,292,180 |
| essv5408771 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5451038 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5466599 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5487383 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5578158 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5590170 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5630505 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5640782 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5679475 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5689814 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5693432 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5727940 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5846970 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5941997 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv5960756 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6005964 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6008701 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6082560 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6313210 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6339072 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6367835 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 | ||
| essv6407164 | Submitted genomic | NC_000016.9:g.(543 15945_54316316)_(5 4325722_54326092)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 54,315,945 | 54,316,316 | 54,325,722 | 54,326,092 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6407164 | 9 | SAMN00001102 | Oligo aCGH | Probe signal intensity | Fail |
| essv5679475 | 9 | SAMN00001118 | Oligo aCGH | Probe signal intensity | Fail |
| essv6008701 | 9 | SAMN00001119 | Oligo aCGH | Probe signal intensity | Fail |
| essv5487383 | 9 | SAMN00001120 | Oligo aCGH | Probe signal intensity | Fail |
| essv6339072 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Fail |
| essv5693432 | 9 | SAMN00001159 | Oligo aCGH | Probe signal intensity | Fail |
| essv5578158 | 9 | SAMN00001160 | Oligo aCGH | Probe signal intensity | Fail |
| essv5846970 | 9 | SAMN00001162 | Oligo aCGH | Probe signal intensity | Fail |
| essv6082560 | 9 | SAMN00001163 | Oligo aCGH | Probe signal intensity | Fail |
| essv5960756 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Fail |
| essv5727940 | 9 | SAMN00001165 | Oligo aCGH | Probe signal intensity | Fail |
| essv5590170 | 9 | SAMN00001166 | Oligo aCGH | Probe signal intensity | Fail |
| essv5640782 | 9 | SAMN00001168 | Oligo aCGH | Probe signal intensity | Fail |
| essv5408771 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Fail |
| essv5451038 | 9 | SAMN00001173 | Oligo aCGH | Probe signal intensity | Fail |
| essv6313210 | 9 | SAMN00001174 | Oligo aCGH | Probe signal intensity | Fail |
| essv5466599 | 9 | SAMN00001176 | Oligo aCGH | Probe signal intensity | Fail |
| essv6005964 | 9 | SAMN00001181 | Oligo aCGH | Probe signal intensity | Fail |
| essv5630505 | 9 | SAMN00001182 | Oligo aCGH | Probe signal intensity | Fail |
| essv6367835 | 9 | SAMN00001191 | Oligo aCGH | Probe signal intensity | Fail |
| essv5689814 | 9 | SAMN00001193 | Oligo aCGH | Probe signal intensity | Fail |
| essv5941997 | 9 | SAMN00001194 | Oligo aCGH | Probe signal intensity | Fail |
| essv6407164 | 7 | SAMN00001102 | SNP array | Probe signal intensity | Pass |
| essv5679475 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
| essv6008701 | 7 | SAMN00001119 | SNP array | Probe signal intensity | Pass |
| essv5487383 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
| essv6339072 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv5693432 | 7 | SAMN00001159 | SNP array | Probe signal intensity | Pass |
| essv5578158 | 7 | SAMN00001160 | SNP array | Probe signal intensity | Pass |
| essv5846970 | 7 | SAMN00001162 | SNP array | Probe signal intensity | Pass |
| essv6082560 | 7 | SAMN00001163 | SNP array | Probe signal intensity | Pass |
| essv5960756 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
| essv5727940 | 7 | SAMN00001165 | SNP array | Probe signal intensity | Pass |
| essv5590170 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
| essv5640782 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
| essv5408771 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv5451038 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
| essv6313210 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv5466599 | 7 | SAMN00001176 | SNP array | Probe signal intensity | Pass |
| essv6005964 | 7 | SAMN00001181 | SNP array | Probe signal intensity | Pass |
| essv5630505 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
| essv6367835 | 7 | SAMN00001191 | SNP array | Probe signal intensity | Pass |
| essv5689814 | 7 | SAMN00001193 | SNP array | Probe signal intensity | Pass |
| essv5941997 | 7 | SAMN00001194 | SNP array | Probe signal intensity | Pass |