esv2663673
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:27
- Validation:Yes
- Clinical Assertions: No
- Region Size:26,092
- 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: 451 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 451 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2663673 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| esv2663673 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5418883 | deletion | SAMN00007809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
| essv5459284 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv5484030 | deletion | SAMN00001129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,603 |
| essv5576953 | deletion | SAMN00007855 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 891 |
| essv5589799 | deletion | SAMN00000573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
| essv5602392 | deletion | SAMN00001672 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 855 |
| essv5617359 | deletion | SAMN00001578 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,497 |
| essv5779424 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
| essv5888857 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv5894409 | deletion | SAMN00001127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,924 |
| essv5921461 | deletion | SAMN00001103 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,547 |
| essv5981814 | deletion | SAMN00001117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,366 |
| essv6042342 | deletion | SAMN00001684 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6189882 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv6192620 | deletion | SAMN00001175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,327 |
| essv6201240 | deletion | SAMN00001631 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,164 |
| essv6233642 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
| essv6298561 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
| essv6328019 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
| essv6342389 | deletion | SAMN00001153 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,528 |
| essv6346382 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv6364732 | deletion | SAMN00001166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
| essv6408254 | deletion | SAMN00001187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,291 |
| essv6424082 | deletion | SAMN00007734 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,582 |
| essv6433055 | deletion | SAMN00001579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,501 |
| essv6472113 | deletion | SAMN00007710 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,414 |
| essv6546279 | deletion | SAMN00001632 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,311 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5418883 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5459284 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5484030 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5576953 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5589799 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5602392 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5617359 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5779424 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5888857 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5894409 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5921461 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5981814 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6042342 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6189882 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6192620 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6201240 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6233642 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6298561 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6328019 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6342389 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6346382 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6364732 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6408254 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6424082 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6433055 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6472113 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv6546279 | Remapped | Perfect | NC_000013.11:g.572 91779_57317870delT | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 57,291,779 | 57,317,870 |
| essv5418883 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5459284 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5484030 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5576953 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5589799 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5602392 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5617359 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5779424 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5888857 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5894409 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5921461 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv5981814 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6042342 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6189882 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6192620 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6201240 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6233642 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6298561 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6328019 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6342389 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6346382 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6364732 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6408254 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6424082 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6433055 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6472113 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 | ||
| essv6546279 | Submitted genomic | NC_000013.10:g.578 65913_57892004delT | GRCh37 (hg19) | NC_000013.10 | Chr13 | 57,865,913 | 57,892,004 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5589799 | 7 | SAMN00000573 | SNP array | Probe signal intensity | Pass |
| essv6346382 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv5921461 | 7 | SAMN00001103 | SNP array | Probe signal intensity | Pass |
| essv6298561 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
| essv5981814 | 7 | SAMN00001117 | SNP array | Probe signal intensity | Pass |
| essv5894409 | 7 | SAMN00001127 | SNP array | Probe signal intensity | Pass |
| essv5484030 | 7 | SAMN00001129 | SNP array | Probe signal intensity | Pass |
| essv5888857 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
| essv6328019 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv6342389 | 7 | SAMN00001153 | SNP array | Probe signal intensity | Pass |
| essv6364732 | 7 | SAMN00001166 | SNP array | Probe signal intensity | Pass |
| essv6233642 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
| essv6192620 | 7 | SAMN00001175 | SNP array | Probe signal intensity | Pass |
| essv5459284 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
| essv6408254 | 7 | SAMN00001187 | SNP array | Probe signal intensity | Pass |
| essv5617359 | 7 | SAMN00001578 | SNP array | Probe signal intensity | Pass |
| essv6433055 | 7 | SAMN00001579 | SNP array | Probe signal intensity | Pass |
| essv6201240 | 7 | SAMN00001631 | SNP array | Probe signal intensity | Pass |
| essv6546279 | 7 | SAMN00001632 | SNP array | Probe signal intensity | Pass |
| essv6189882 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv5602392 | 7 | SAMN00001672 | SNP array | Probe signal intensity | Pass |
| essv6042342 | 7 | SAMN00001684 | SNP array | Probe signal intensity | Pass |
| essv6472113 | 7 | SAMN00007710 | SNP array | Probe signal intensity | Pass |
| essv6424082 | 7 | SAMN00007734 | SNP array | Probe signal intensity | Pass |
| essv5779424 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
| essv5418883 | 7 | SAMN00007809 | SNP array | Probe signal intensity | Pass |
| essv5576953 | 7 | SAMN00007855 | SNP array | Probe signal intensity | Pass |