esv3478069
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:50
- Validation:Yes
- Clinical Assertions: No
- Region Size:47,039
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 239 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3478069 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| esv3478069 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| esv3478069 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 128,944,414 (-15, +5) | 128,991,452 (-14, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7692323 | deletion | SAMN00001602 | Sequencing | Split read mapping | 14,902 |
| essv7692324 | deletion | SAMN00801099 | Sequencing | Split read mapping | 14,647 |
| essv7692325 | deletion | SAMN00800945 | Sequencing | Split read mapping | 6,568 |
| essv7692326 | deletion | SAMN00001626 | Sequencing | Split read mapping | 11,564 |
| essv7692327 | deletion | SAMN00800258 | Sequencing | Split read mapping | 12,098 |
| essv7692328 | deletion | SAMN00001593 | Sequencing | Split read mapping | 15,444 |
| essv7692329 | deletion | SAMN00001617 | Sequencing | Split read mapping | 15,543 |
| essv7692330 | deletion | SAMN00801055 | Sequencing | Split read mapping | 13,732 |
| essv7692331 | deletion | SAMN00801646 | Sequencing | Split read mapping | 11,757 |
| essv7692333 | deletion | SAMN00801103 | Sequencing | Split read mapping | 9,141 |
| essv7692334 | deletion | SAMN00797154 | Sequencing | Split read mapping | 12,042 |
| essv7692335 | deletion | SAMN00001693 | Sequencing | Split read mapping | 10,093 |
| essv7692336 | deletion | SAMN00001552 | Sequencing | Split read mapping | 19,162 |
| essv7692337 | deletion | SAMN00001538 | Sequencing | Split read mapping | 26,254 |
| essv7692338 | deletion | SAMN00801051 | Sequencing | Split read mapping | 14,990 |
| essv7692339 | deletion | SAMN00797419 | Sequencing | Split read mapping | 10,938 |
| essv7692340 | deletion | SAMN00801317 | Sequencing | Split read mapping | 13,343 |
| essv7692341 | deletion | SAMN00001622 | Sequencing | Split read mapping | 10,424 |
| essv7692342 | deletion | SAMN00001577 | Sequencing | Split read mapping | 9,631 |
| essv7692344 | deletion | SAMN00001671 | Sequencing | Split read mapping | 10,275 |
| essv7692345 | deletion | SAMN00001611 | Sequencing | Split read mapping | 14,683 |
| essv7692346 | deletion | SAMN00001621 | Sequencing | Split read mapping | 15,382 |
| essv7692347 | deletion | SAMN00797126 | Sequencing | Split read mapping | 11,843 |
| essv7692348 | deletion | SAMN00001615 | Sequencing | Split read mapping | 9,351 |
| essv7692349 | deletion | SAMN00001697 | Sequencing | Split read mapping | 21,017 |
| essv7692350 | deletion | SAMN00001645 | Sequencing | Split read mapping | 13,185 |
| essv7692351 | deletion | SAMN00001601 | Sequencing | Split read mapping | 14,986 |
| essv7692352 | deletion | SAMN00001667 | Sequencing | Split read mapping | 12,201 |
| essv7692353 | deletion | SAMN00001663 | Sequencing | Split read mapping | 12,931 |
| essv7692355 | deletion | SAMN00001620 | Sequencing | Split read mapping | 9,873 |
| essv7692356 | deletion | SAMN00001668 | Sequencing | Split read mapping | 11,562 |
| essv7692357 | deletion | SAMN00001608 | Sequencing | Split read mapping | 14,593 |
| essv7692358 | deletion | SAMN00001580 | Sequencing | Split read mapping | 12,837 |
| essv7692359 | deletion | SAMN00001600 | Sequencing | Split read mapping | 15,861 |
| essv7692360 | deletion | SAMN00801680 | Sequencing | Split read mapping | 19,937 |
| essv7692361 | deletion | SAMN00001599 | Sequencing | Split read mapping | 14,998 |
| essv7692362 | deletion | SAMN00001544 | Sequencing | Split read mapping | 15,303 |
| essv7692363 | deletion | SAMN00801682 | Sequencing | Split read mapping | 12,291 |
| essv7692364 | deletion | SAMN00001695 | Sequencing | Split read mapping | 37,049 |
| essv7692366 | deletion | SAMN00001636 | Sequencing | Split read mapping | 14,366 |
| essv7692367 | deletion | SAMN00001607 | Sequencing | Split read mapping | 9,760 |
| essv7692368 | deletion | SAMN00001623 | Sequencing | Split read mapping | 10,870 |
| essv7692369 | deletion | SAMN00001554 | Sequencing | Split read mapping | 9,542 |
| essv7692370 | deletion | SAMN00801029 | Sequencing | Split read mapping | 14,389 |
| essv7692371 | deletion | SAMN00001609 | Sequencing | Split read mapping | 14,604 |
| essv7692372 | deletion | SAMN00800266 | Sequencing | Split read mapping | 11,909 |
| essv7692373 | deletion | SAMN00001644 | Sequencing | Split read mapping | 14,069 |
| essv7692374 | deletion | SAMN00001632 | Sequencing | Split read mapping | 10,836 |
| essv7692375 | deletion | SAMN00001646 | Sequencing | Split read mapping | 8,808 |
| essv7692377 | deletion | SAMN00001588 | Sequencing | Split read mapping | 10,183 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7692323 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692324 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692325 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692326 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692327 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692328 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692329 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692330 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692331 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692333 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692334 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692335 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692336 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692337 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692338 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692339 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692340 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692341 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692342 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692344 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692345 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692346 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692347 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692348 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692349 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692350 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692351 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692352 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692353 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692355 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692356 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692357 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692358 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692359 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692360 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692361 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692362 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692363 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692364 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692366 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692367 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692368 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692369 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692370 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692371 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692372 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692373 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692374 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692375 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692377 | Remapped | Perfect | NC_000007.14:g.(12 9517322_129517342) _(129564361_129564 380)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 129,517,337 (-15, +5) | 129,564,375 (-14, +5) |
| essv7692323 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692324 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692325 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692326 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692327 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692328 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692329 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692330 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692331 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692333 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692334 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692335 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692336 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692337 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692338 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692339 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692340 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692341 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692342 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692344 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692345 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692346 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692347 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692348 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692349 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692350 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692351 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692352 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692353 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692355 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692356 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692357 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692358 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692359 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692360 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692361 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692362 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692363 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692364 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692366 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692367 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692368 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692369 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692370 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692371 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692372 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692373 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692374 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692375 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
| essv7692377 | Remapped | Perfect | NC_000007.13:g.(12 9157163_129157183) _(129204202_129204 221)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 129,157,178 (-15, +5) | 129,204,216 (-14, +5) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv7692337 | 36 | SAMN00001538 | Digital array | Other | Fail |
| essv7692337 | 38 | SAMN00001538 | Digital array | Other | Fail |
| essv7692362 | 36 | SAMN00001544 | Digital array | Other | Fail |
| essv7692362 | 38 | SAMN00001544 | Digital array | Other | Fail |
| essv7692336 | 36 | SAMN00001552 | Digital array | Other | Fail |
| essv7692336 | 38 | SAMN00001552 | Digital array | Other | Fail |
| essv7692369 | 36 | SAMN00001554 | Digital array | Other | Fail |
| essv7692369 | 38 | SAMN00001554 | Digital array | Other | Fail |
| essv7692342 | 36 | SAMN00001577 | Digital array | Other | Fail |
| essv7692342 | 38 | SAMN00001577 | Digital array | Other | Fail |
| essv7692358 | 36 | SAMN00001580 | Digital array | Other | Fail |
| essv7692358 | 38 | SAMN00001580 | Digital array | Other | Fail |
| essv7692377 | 36 | SAMN00001588 | Digital array | Other | Fail |
| essv7692377 | 38 | SAMN00001588 | Digital array | Other | Fail |
| essv7692328 | 36 | SAMN00001593 | Digital array | Other | Fail |
| essv7692328 | 38 | SAMN00001593 | Digital array | Other | Fail |
| essv7692361 | 36 | SAMN00001599 | Digital array | Other | Fail |
| essv7692361 | 38 | SAMN00001599 | Digital array | Other | Fail |
| essv7692359 | 36 | SAMN00001600 | Digital array | Other | Fail |
| essv7692359 | 38 | SAMN00001600 | Digital array | Other | Fail |
| essv7692351 | 36 | SAMN00001601 | Digital array | Other | Fail |
| essv7692351 | 38 | SAMN00001601 | Digital array | Other | Fail |
| essv7692323 | 36 | SAMN00001602 | Digital array | Other | Fail |
| essv7692323 | 38 | SAMN00001602 | Digital array | Other | Fail |
| essv7692367 | 36 | SAMN00001607 | Digital array | Other | Fail |
| essv7692367 | 38 | SAMN00001607 | Digital array | Other | Fail |
| essv7692357 | 36 | SAMN00001608 | Digital array | Other | Fail |
| essv7692357 | 38 | SAMN00001608 | Digital array | Other | Fail |
| essv7692371 | 36 | SAMN00001609 | Digital array | Other | Fail |
| essv7692371 | 38 | SAMN00001609 | Digital array | Other | Fail |
| essv7692345 | 36 | SAMN00001611 | Digital array | Other | Fail |
| essv7692345 | 38 | SAMN00001611 | Digital array | Other | Fail |
| essv7692348 | 36 | SAMN00001615 | Digital array | Other | Fail |
| essv7692348 | 38 | SAMN00001615 | Digital array | Other | Fail |
| essv7692329 | 36 | SAMN00001617 | Digital array | Other | Fail |
| essv7692329 | 38 | SAMN00001617 | Digital array | Other | Fail |
| essv7692355 | 36 | SAMN00001620 | Digital array | Other | Fail |
| essv7692355 | 38 | SAMN00001620 | Digital array | Other | Fail |
| essv7692346 | 36 | SAMN00001621 | Digital array | Other | Fail |
| essv7692346 | 38 | SAMN00001621 | Digital array | Other | Fail |
| essv7692341 | 36 | SAMN00001622 | Digital array | Other | Fail |
| essv7692341 | 38 | SAMN00001622 | Digital array | Other | Fail |
| essv7692368 | 36 | SAMN00001623 | Digital array | Other | Fail |
| essv7692368 | 38 | SAMN00001623 | Digital array | Other | Fail |
| essv7692326 | 36 | SAMN00001626 | Digital array | Other | Fail |
| essv7692326 | 38 | SAMN00001626 | Digital array | Other | Fail |
| essv7692374 | 36 | SAMN00001632 | Digital array | Other | Fail |
| essv7692374 | 38 | SAMN00001632 | Digital array | Other | Fail |
| essv7692366 | 36 | SAMN00001636 | Digital array | Other | Fail |
| essv7692366 | 38 | SAMN00001636 | Digital array | Other | Fail |
| essv7692373 | 36 | SAMN00001644 | Digital array | Other | Fail |
| essv7692373 | 38 | SAMN00001644 | Digital array | Other | Fail |
| essv7692350 | 36 | SAMN00001645 | Digital array | Other | Fail |
| essv7692350 | 38 | SAMN00001645 | Digital array | Other | Fail |
| essv7692375 | 36 | SAMN00001646 | Digital array | Other | Fail |
| essv7692375 | 38 | SAMN00001646 | Digital array | Other | Fail |
| essv7692353 | 36 | SAMN00001663 | Digital array | Other | Fail |
| essv7692353 | 38 | SAMN00001663 | Digital array | Other | Fail |
| essv7692352 | 36 | SAMN00001667 | Digital array | Other | Fail |
| essv7692352 | 38 | SAMN00001667 | Digital array | Other | Fail |
| essv7692356 | 36 | SAMN00001668 | Digital array | Other | Fail |
| essv7692356 | 38 | SAMN00001668 | Digital array | Other | Fail |
| essv7692344 | 36 | SAMN00001671 | Digital array | Other | Fail |
| essv7692344 | 38 | SAMN00001671 | Digital array | Other | Fail |
| essv7692335 | 36 | SAMN00001693 | Digital array | Other | Fail |
| essv7692335 | 38 | SAMN00001693 | Digital array | Other | Fail |
| essv7692364 | 36 | SAMN00001695 | Digital array | Other | Fail |
| essv7692364 | 38 | SAMN00001695 | Digital array | Other | Fail |
| essv7692349 | 36 | SAMN00001697 | Digital array | Other | Fail |
| essv7692349 | 38 | SAMN00001697 | Digital array | Other | Fail |
| essv7692347 | 36 | SAMN00797126 | Digital array | Other | Fail |
| essv7692347 | 38 | SAMN00797126 | Digital array | Other | Fail |
| essv7692334 | 36 | SAMN00797154 | Digital array | Other | Fail |
| essv7692334 | 38 | SAMN00797154 | Digital array | Other | Fail |
| essv7692339 | 36 | SAMN00797419 | Digital array | Other | Fail |
| essv7692339 | 38 | SAMN00797419 | Digital array | Other | Fail |
| essv7692327 | 36 | SAMN00800258 | Digital array | Other | Fail |
| essv7692327 | 38 | SAMN00800258 | Digital array | Other | Fail |
| essv7692372 | 36 | SAMN00800266 | Digital array | Other | Fail |
| essv7692372 | 38 | SAMN00800266 | Digital array | Other | Fail |
| essv7692325 | 36 | SAMN00800945 | Digital array | Other | Fail |
| essv7692325 | 38 | SAMN00800945 | Digital array | Other | Fail |
| essv7692370 | 36 | SAMN00801029 | Digital array | Other | Fail |
| essv7692370 | 38 | SAMN00801029 | Digital array | Other | Fail |
| essv7692338 | 36 | SAMN00801051 | Digital array | Other | Fail |
| essv7692338 | 38 | SAMN00801051 | Digital array | Other | Fail |
| essv7692330 | 36 | SAMN00801055 | Digital array | Other | Fail |
| essv7692330 | 38 | SAMN00801055 | Digital array | Other | Fail |
| essv7692324 | 36 | SAMN00801099 | Digital array | Other | Fail |
| essv7692324 | 38 | SAMN00801099 | Digital array | Other | Fail |
| essv7692333 | 36 | SAMN00801103 | Digital array | Other | Fail |
| essv7692333 | 38 | SAMN00801103 | Digital array | Other | Fail |
| essv7692340 | 36 | SAMN00801317 | Digital array | Other | Fail |
| essv7692340 | 38 | SAMN00801317 | Digital array | Other | Fail |
| essv7692331 | 36 | SAMN00801646 | Digital array | Other | Fail |
| essv7692331 | 38 | SAMN00801646 | Digital array | Other | Fail |
| essv7692360 | 36 | SAMN00801680 | Digital array | Other | Fail |
| essv7692360 | 38 | SAMN00801680 | Digital array | Other | Fail |
| essv7692363 | 36 | SAMN00801682 | Digital array | Other | Fail |
| essv7692363 | 38 | SAMN00801682 | Digital array | Other | Fail |
| essv7692337 | 37 | SAMN00001538 | Sequencing | de novo sequence assembly | Pass |
| essv7692362 | 37 | SAMN00001544 | Sequencing | de novo sequence assembly | Pass |
| essv7692336 | 37 | SAMN00001552 | Sequencing | de novo sequence assembly | Pass |
| essv7692369 | 37 | SAMN00001554 | Sequencing | de novo sequence assembly | Pass |
| essv7692342 | 37 | SAMN00001577 | Sequencing | de novo sequence assembly | Pass |
| essv7692358 | 37 | SAMN00001580 | Sequencing | de novo sequence assembly | Pass |
| essv7692377 | 37 | SAMN00001588 | Sequencing | de novo sequence assembly | Pass |
| essv7692328 | 37 | SAMN00001593 | Sequencing | de novo sequence assembly | Pass |
| essv7692361 | 37 | SAMN00001599 | Sequencing | de novo sequence assembly | Pass |
| essv7692359 | 37 | SAMN00001600 | Sequencing | de novo sequence assembly | Pass |
| essv7692351 | 37 | SAMN00001601 | Sequencing | de novo sequence assembly | Pass |
| essv7692323 | 37 | SAMN00001602 | Sequencing | de novo sequence assembly | Pass |
| essv7692367 | 37 | SAMN00001607 | Sequencing | de novo sequence assembly | Pass |
| essv7692357 | 37 | SAMN00001608 | Sequencing | de novo sequence assembly | Pass |
| essv7692371 | 37 | SAMN00001609 | Sequencing | de novo sequence assembly | Pass |
| essv7692345 | 37 | SAMN00001611 | Sequencing | de novo sequence assembly | Pass |
| essv7692348 | 37 | SAMN00001615 | Sequencing | de novo sequence assembly | Pass |
| essv7692329 | 37 | SAMN00001617 | Sequencing | de novo sequence assembly | Pass |
| essv7692355 | 37 | SAMN00001620 | Sequencing | de novo sequence assembly | Pass |
| essv7692346 | 37 | SAMN00001621 | Sequencing | de novo sequence assembly | Pass |
| essv7692341 | 37 | SAMN00001622 | Sequencing | de novo sequence assembly | Pass |
| essv7692368 | 37 | SAMN00001623 | Sequencing | de novo sequence assembly | Pass |
| essv7692326 | 37 | SAMN00001626 | Sequencing | de novo sequence assembly | Pass |
| essv7692374 | 37 | SAMN00001632 | Sequencing | de novo sequence assembly | Pass |
| essv7692366 | 37 | SAMN00001636 | Sequencing | de novo sequence assembly | Pass |
| essv7692373 | 37 | SAMN00001644 | Sequencing | de novo sequence assembly | Pass |
| essv7692350 | 37 | SAMN00001645 | Sequencing | de novo sequence assembly | Pass |
| essv7692375 | 37 | SAMN00001646 | Sequencing | de novo sequence assembly | Pass |
| essv7692353 | 37 | SAMN00001663 | Sequencing | de novo sequence assembly | Pass |
| essv7692352 | 37 | SAMN00001667 | Sequencing | de novo sequence assembly | Pass |
| essv7692356 | 37 | SAMN00001668 | Sequencing | de novo sequence assembly | Pass |
| essv7692344 | 37 | SAMN00001671 | Sequencing | de novo sequence assembly | Pass |
| essv7692335 | 37 | SAMN00001693 | Sequencing | de novo sequence assembly | Pass |
| essv7692364 | 37 | SAMN00001695 | Sequencing | de novo sequence assembly | Pass |
| essv7692349 | 37 | SAMN00001697 | Sequencing | de novo sequence assembly | Pass |
| essv7692347 | 37 | SAMN00797126 | Sequencing | de novo sequence assembly | Pass |
| essv7692334 | 37 | SAMN00797154 | Sequencing | de novo sequence assembly | Pass |
| essv7692339 | 37 | SAMN00797419 | Sequencing | de novo sequence assembly | Pass |
| essv7692327 | 37 | SAMN00800258 | Sequencing | de novo sequence assembly | Pass |
| essv7692372 | 37 | SAMN00800266 | Sequencing | de novo sequence assembly | Pass |
| essv7692325 | 37 | SAMN00800945 | Sequencing | de novo sequence assembly | Pass |
| essv7692370 | 37 | SAMN00801029 | Sequencing | de novo sequence assembly | Pass |
| essv7692338 | 37 | SAMN00801051 | Sequencing | de novo sequence assembly | Pass |
| essv7692330 | 37 | SAMN00801055 | Sequencing | de novo sequence assembly | Pass |
| essv7692324 | 37 | SAMN00801099 | Sequencing | de novo sequence assembly | Pass |
| essv7692333 | 37 | SAMN00801103 | Sequencing | de novo sequence assembly | Pass |
| essv7692340 | 37 | SAMN00801317 | Sequencing | de novo sequence assembly | Pass |
| essv7692331 | 37 | SAMN00801646 | Sequencing | de novo sequence assembly | Pass |
| essv7692360 | 37 | SAMN00801680 | Sequencing | de novo sequence assembly | Pass |
| essv7692363 | 37 | SAMN00801682 | Sequencing | de novo sequence assembly | Pass |