esv2733915
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,934
- Publication(s):Wong et al. 2013
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: 673 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 673 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2733915 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,755,919 | 5,812,852 |
| esv2733915 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 5,795,550 | 5,852,483 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6926994 | deletion | SSM019 | Sequencing | Paired-end mapping | 3,034 |
| essv6841448 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6778400 | deletion | SSM067 | Sequencing | Paired-end mapping | 3,533 |
| essv6671415 | deletion | SSM031 | Sequencing | Paired-end mapping | 5,663 |
| essv6705215 | deletion | SSM040 | Sequencing | Paired-end mapping | 3,085 |
| essv6684160 | deletion | SSM034 | Sequencing | Paired-end mapping | 2,996 |
| essv6893702 | deletion | SSM098 | Sequencing | Paired-end mapping | 3,190 |
| essv6907760 | deletion | SSM014 | Sequencing | Paired-end mapping | 3,528 |
| essv6861090 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6884383 | deletion | SSM095 | Sequencing | Paired-end mapping | 2,453 |
| essv6896899 | deletion | SSM099 | Sequencing | Paired-end mapping | 2,492 |
| essv6881566 | deletion | SSM094 | Sequencing | Paired-end mapping | 2,544 |
| essv6856565 | deletion | SSM011 | Sequencing | Paired-end mapping | 2,960 |
| essv6767699 | deletion | SSM064 | Sequencing | Paired-end mapping | 2,654 |
| essv6833967 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6684161 | deletion | SSM034 | Sequencing | Paired-end mapping | 2,996 |
| essv6687412 | deletion | SSM035 | Sequencing | Paired-end mapping | 2,787 |
| essv6865812 | deletion | SSM089 | Sequencing | Paired-end mapping | 4,329 |
| essv6802713 | deletion | SSM073 | Sequencing | Paired-end mapping | 2,506 |
| essv6818452 | deletion | SSM078 | Sequencing | Paired-end mapping | 4,128 |
| essv6957367 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6865813 | deletion | SSM089 | Sequencing | Paired-end mapping | 4,329 |
| essv6964063 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6671416 | deletion | SSM031 | Sequencing | Paired-end mapping | 5,663 |
| essv6849418 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6855522 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6861091 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6975154 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6926994 | Remapped | Perfect | NC_000007.14:g.(57 55919_?)_(?_581284 9)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,919 | 5,812,849 |
| essv6841448 | Remapped | Perfect | NC_000007.14:g.(57 55924_?)_(?_581285 4)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,924 | 5,812,854 |
| essv6778400 | Remapped | Perfect | NC_000007.14:g.(57 55925_?)_(?_581285 0)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,925 | 5,812,850 |
| essv6671415 | Remapped | Perfect | NC_000007.14:g.(57 55935_?)_(?_581284 9)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,935 | 5,812,849 |
| essv6705215 | Remapped | Perfect | NC_000007.14:g.(57 55936_?)_(?_581285 2)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,936 | 5,812,852 |
| essv6684160 | Remapped | Perfect | NC_000007.14:g.(57 55940_?)_(?_581285 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,940 | 5,812,853 |
| essv6893702 | Remapped | Perfect | NC_000007.14:g.(57 55981_?)_(?_581285 2)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,981 | 5,812,852 |
| essv6907760 | Remapped | Perfect | NC_000007.14:g.(57 55985_?)_(?_581284 9)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,985 | 5,812,849 |
| essv6861090 | Remapped | Perfect | NC_000007.14:g.(57 55992_?)_(?_581285 0)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,755,992 | 5,812,850 |
| essv6884383 | Remapped | Perfect | NC_000007.14:g.(58 03115_?)_(?_580366 7)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,115 | 5,803,667 |
| essv6896899 | Remapped | Perfect | NC_000007.14:g.(58 03119_?)_(?_580367 4)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,119 | 5,803,674 |
| essv6881566 | Remapped | Perfect | NC_000007.14:g.(58 03120_?)_(?_580345 2)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,120 | 5,803,452 |
| essv6856565 | Remapped | Perfect | NC_000007.14:g.(58 03122_?)_(?_580344 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,122 | 5,803,443 |
| essv6767699 | Remapped | Perfect | NC_000007.14:g.(58 03123_?)_(?_580342 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,123 | 5,803,423 |
| essv6833967 | Remapped | Perfect | NC_000007.14:g.(58 03135_?)_(?_580342 2)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,135 | 5,803,422 |
| essv6684161 | Remapped | Perfect | NC_000007.14:g.(58 03167_?)_(?_580345 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,167 | 5,803,453 |
| essv6687412 | Remapped | Perfect | NC_000007.14:g.(58 03181_?)_(?_580343 5)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,181 | 5,803,435 |
| essv6865812 | Remapped | Perfect | NC_000007.14:g.(58 03184_?)_(?_580344 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,184 | 5,803,443 |
| essv6802713 | Remapped | Perfect | NC_000007.14:g.(58 03275_?)_(?_580349 4)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,275 | 5,803,494 |
| essv6818452 | Remapped | Perfect | NC_000007.14:g.(58 03289_?)_(?_580347 2)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,289 | 5,803,472 |
| essv6957367 | Remapped | Perfect | NC_000007.14:g.(58 03290_?)_(?_580343 7)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,290 | 5,803,437 |
| essv6865813 | Remapped | Perfect | NC_000007.14:g.(58 03290_?)_(?_580344 3)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,290 | 5,803,443 |
| essv6964063 | Remapped | Perfect | NC_000007.14:g.(58 03290_?)_(?_580344 8)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,290 | 5,803,448 |
| essv6671416 | Remapped | Perfect | NC_000007.14:g.(58 03291_?)_(?_580346 0)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,291 | 5,803,460 |
| essv6849418 | Remapped | Perfect | NC_000007.14:g.(58 03292_?)_(?_580345 0)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,292 | 5,803,450 |
| essv6855522 | Remapped | Perfect | NC_000007.14:g.(58 03293_?)_(?_580344 4)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,293 | 5,803,444 |
| essv6861091 | Remapped | Perfect | NC_000007.14:g.(58 03294_?)_(?_580343 5)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,294 | 5,803,435 |
| essv6975154 | Remapped | Perfect | NC_000007.14:g.(58 03295_?)_(?_580354 4)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,803,295 | 5,803,544 |
| essv6926994 | Submitted genomic | NC_000007.13:g.(57 95550_?)_(?_585248 0)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,550 | 5,852,480 | ||
| essv6841448 | Submitted genomic | NC_000007.13:g.(57 95555_?)_(?_585248 5)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,555 | 5,852,485 | ||
| essv6778400 | Submitted genomic | NC_000007.13:g.(57 95556_?)_(?_585248 1)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,556 | 5,852,481 | ||
| essv6671415 | Submitted genomic | NC_000007.13:g.(57 95566_?)_(?_585248 0)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,566 | 5,852,480 | ||
| essv6705215 | Submitted genomic | NC_000007.13:g.(57 95567_?)_(?_585248 3)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,567 | 5,852,483 | ||
| essv6684160 | Submitted genomic | NC_000007.13:g.(57 95571_?)_(?_585248 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,571 | 5,852,484 | ||
| essv6893702 | Submitted genomic | NC_000007.13:g.(57 95612_?)_(?_585248 3)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,612 | 5,852,483 | ||
| essv6907760 | Submitted genomic | NC_000007.13:g.(57 95616_?)_(?_585248 0)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,616 | 5,852,480 | ||
| essv6861090 | Submitted genomic | NC_000007.13:g.(57 95623_?)_(?_585248 1)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,795,623 | 5,852,481 | ||
| essv6884383 | Submitted genomic | NC_000007.13:g.(58 42746_?)_(?_584329 8)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,746 | 5,843,298 | ||
| essv6896899 | Submitted genomic | NC_000007.13:g.(58 42750_?)_(?_584330 5)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,750 | 5,843,305 | ||
| essv6881566 | Submitted genomic | NC_000007.13:g.(58 42751_?)_(?_584308 3)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,751 | 5,843,083 | ||
| essv6856565 | Submitted genomic | NC_000007.13:g.(58 42753_?)_(?_584307 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,753 | 5,843,074 | ||
| essv6767699 | Submitted genomic | NC_000007.13:g.(58 42754_?)_(?_584305 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,754 | 5,843,054 | ||
| essv6833967 | Submitted genomic | NC_000007.13:g.(58 42766_?)_(?_584305 3)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,766 | 5,843,053 | ||
| essv6684161 | Submitted genomic | NC_000007.13:g.(58 42798_?)_(?_584308 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,798 | 5,843,084 | ||
| essv6687412 | Submitted genomic | NC_000007.13:g.(58 42812_?)_(?_584306 6)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,812 | 5,843,066 | ||
| essv6865812 | Submitted genomic | NC_000007.13:g.(58 42815_?)_(?_584307 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,815 | 5,843,074 | ||
| essv6802713 | Submitted genomic | NC_000007.13:g.(58 42906_?)_(?_584312 5)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,906 | 5,843,125 | ||
| essv6818452 | Submitted genomic | NC_000007.13:g.(58 42920_?)_(?_584310 3)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,920 | 5,843,103 | ||
| essv6957367 | Submitted genomic | NC_000007.13:g.(58 42921_?)_(?_584306 8)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,921 | 5,843,068 | ||
| essv6865813 | Submitted genomic | NC_000007.13:g.(58 42921_?)_(?_584307 4)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,921 | 5,843,074 | ||
| essv6964063 | Submitted genomic | NC_000007.13:g.(58 42921_?)_(?_584307 9)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,921 | 5,843,079 | ||
| essv6671416 | Submitted genomic | NC_000007.13:g.(58 42922_?)_(?_584309 1)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,922 | 5,843,091 | ||
| essv6849418 | Submitted genomic | NC_000007.13:g.(58 42923_?)_(?_584308 1)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,923 | 5,843,081 | ||
| essv6855522 | Submitted genomic | NC_000007.13:g.(58 42924_?)_(?_584307 5)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,924 | 5,843,075 | ||
| essv6861091 | Submitted genomic | NC_000007.13:g.(58 42925_?)_(?_584306 6)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,925 | 5,843,066 | ||
| essv6975154 | Submitted genomic | NC_000007.13:g.(58 42926_?)_(?_584317 5)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 5,842,926 | 5,843,175 |