esv2668342
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Yes
- Clinical Assertions: No
- Region Size:10,348
- 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: 506 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2668342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| esv2668342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5405296 | deletion | SAMN00004676 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,157 |
| essv5411895 | deletion | SAMN00006337 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,004 |
| essv5432163 | deletion | SAMN00004670 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,005 |
| essv5466915 | deletion | SAMN00004622 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 762 |
| essv5489450 | deletion | SAMN00006369 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 961 |
| essv5563568 | deletion | SAMN00004645 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 771 |
| essv5574077 | deletion | SAMN00006342 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,300 |
| essv5584378 | deletion | SAMN00009088 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv5645829 | deletion | SAMN00006365 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv5778417 | deletion | SAMN00004654 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,595 |
| essv5965285 | deletion | SAMN00009092 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv5993231 | deletion | SAMN00006366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
| essv6006285 | deletion | SAMN00004675 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,496 |
| essv6087768 | deletion | SAMN00004626 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 843 |
| essv6089159 | deletion | SAMN00006361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,388 |
| essv6090264 | deletion | SAMN00004644 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 930 |
| essv6129937 | deletion | SAMN00006349 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,732 |
| essv6132565 | deletion | SAMN00004634 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
| essv6146851 | deletion | SAMN00004673 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 856 |
| essv6151148 | deletion | SAMN00004651 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,353 |
| essv6169856 | deletion | SAMN00004637 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,578 |
| essv6216435 | deletion | SAMN00006344 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,026 |
| essv6289883 | deletion | SAMN00006368 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv6338248 | deletion | SAMN00006352 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv6345071 | deletion | SAMN00004677 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 693 |
| essv6389396 | deletion | SAMN00006367 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,120 |
| essv6438988 | deletion | SAMN00006358 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,609 |
| essv6547000 | deletion | SAMN00006341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,375 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5405296 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5411895 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5432163 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5466915 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5489450 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5563568 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5574077 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5584378 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5645829 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5778417 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5965285 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5993231 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6006285 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6087768 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6089159 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6090264 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6129937 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6132565 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6146851 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6151148 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6169856 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6216435 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6289883 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6338248 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6345071 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6389396 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6438988 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv6547000 | Remapped | Perfect | NC_000004.12:g.(13 7169191_137169562) _(137179168_137179 538)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 137,169,191 | 137,169,562 | 137,179,168 | 137,179,538 |
| essv5405296 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5411895 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5432163 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5466915 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5489450 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5563568 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5574077 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5584378 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5645829 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5778417 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5965285 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv5993231 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6006285 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6087768 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6089159 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6090264 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6129937 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6132565 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6146851 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6151148 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6169856 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6216435 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6289883 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6338248 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6345071 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6389396 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6438988 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 | ||
| essv6547000 | Submitted genomic | NC_000004.11:g.(13 8090345_138090716) _(138100322_138100 692)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 138,090,345 | 138,090,716 | 138,100,322 | 138,100,692 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5466915 | 7 | SAMN00004622 | SNP array | Probe signal intensity | Pass |
| essv6087768 | 7 | SAMN00004626 | SNP array | Probe signal intensity | Pass |
| essv6132565 | 7 | SAMN00004634 | SNP array | Probe signal intensity | Pass |
| essv6169856 | 7 | SAMN00004637 | SNP array | Probe signal intensity | Pass |
| essv6090264 | 7 | SAMN00004644 | SNP array | Probe signal intensity | Pass |
| essv5563568 | 7 | SAMN00004645 | SNP array | Probe signal intensity | Pass |
| essv6151148 | 7 | SAMN00004651 | SNP array | Probe signal intensity | Pass |
| essv5778417 | 7 | SAMN00004654 | SNP array | Probe signal intensity | Pass |
| essv5432163 | 7 | SAMN00004670 | SNP array | Probe signal intensity | Pass |
| essv6146851 | 7 | SAMN00004673 | SNP array | Probe signal intensity | Pass |
| essv6006285 | 7 | SAMN00004675 | SNP array | Probe signal intensity | Pass |
| essv5405296 | 7 | SAMN00004676 | SNP array | Probe signal intensity | Pass |
| essv6345071 | 7 | SAMN00004677 | SNP array | Probe signal intensity | Pass |
| essv5411895 | 7 | SAMN00006337 | SNP array | Probe signal intensity | Pass |
| essv6547000 | 7 | SAMN00006341 | SNP array | Probe signal intensity | Pass |
| essv5574077 | 7 | SAMN00006342 | SNP array | Probe signal intensity | Pass |
| essv6216435 | 7 | SAMN00006344 | SNP array | Probe signal intensity | Pass |
| essv6129937 | 7 | SAMN00006349 | SNP array | Probe signal intensity | Pass |
| essv6338248 | 7 | SAMN00006352 | SNP array | Probe signal intensity | Pass |
| essv6438988 | 7 | SAMN00006358 | SNP array | Probe signal intensity | Pass |
| essv6089159 | 7 | SAMN00006361 | SNP array | Probe signal intensity | Pass |
| essv5645829 | 7 | SAMN00006365 | SNP array | Probe signal intensity | Pass |
| essv5993231 | 7 | SAMN00006366 | SNP array | Probe signal intensity | Pass |
| essv6389396 | 7 | SAMN00006367 | SNP array | Probe signal intensity | Pass |
| essv6289883 | 7 | SAMN00006368 | SNP array | Probe signal intensity | Pass |
| essv5489450 | 7 | SAMN00006369 | SNP array | Probe signal intensity | Pass |
| essv5584378 | 7 | SAMN00009088 | SNP array | Probe signal intensity | Pass |
| essv5965285 | 7 | SAMN00009092 | SNP array | Probe signal intensity | Pass |