esv2667088
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,894
- 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: 248 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 66 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2667088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| esv2667088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5450576 | deletion | SAMN00000926 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,337 |
| essv5662121 | deletion | SAMN00001604 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,444 |
| essv5753499 | deletion | SAMN00000425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,480 |
| essv5807985 | deletion | SAMN00000922 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv5856491 | deletion | SAMN00000443 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,022 |
| essv5898502 | deletion | SAMN00000928 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,335 |
| essv5970675 | deletion | SAMN00000433 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,612 |
| essv5986108 | deletion | SAMN00001596 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,369 |
| essv6075083 | deletion | SAMN00001618 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,316 |
| essv6134111 | deletion | SAMN00000925 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,217 |
| essv6165918 | deletion | SAMN00000422 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,640 |
| essv6222816 | deletion | SAMN00000447 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,578 |
| essv6271190 | deletion | SAMN00001615 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv6367895 | deletion | SAMN00000437 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
| essv6402671 | deletion | SAMN00000927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
| essv6458196 | deletion | SAMN00000428 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,733 |
| essv6477667 | deletion | SAMN00000454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,020 |
| essv6478914 | deletion | SAMN00001619 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,363 |
| essv6492021 | deletion | SAMN00000441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,152 |
| essv6515912 | deletion | SAMN00001606 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,273 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5450576 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5662121 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5753499 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5807985 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5856491 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5898502 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5970675 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5986108 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6075083 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6134111 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6165918 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6222816 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6271190 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6367895 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6402671 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6458196 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6477667 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6478914 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6492021 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv6515912 | Remapped | Perfect | NC_000004.12:g.972 51360_97266253delT | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,251,360 | 97,266,253 |
| essv5450576 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5662121 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5753499 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5807985 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5856491 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5898502 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5970675 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv5986108 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6075083 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6134111 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6165918 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6222816 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6271190 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6367895 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6402671 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6458196 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6477667 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6478914 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6492021 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 | ||
| essv6515912 | Submitted genomic | NC_000004.11:g.981 72511_98187404delT | GRCh37 (hg19) | NC_000004.11 | Chr4 | 98,172,511 | 98,187,404 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6165918 | 7 | SAMN00000422 | SNP array | Probe signal intensity | Pass |
| essv5753499 | 7 | SAMN00000425 | SNP array | Probe signal intensity | Pass |
| essv6458196 | 7 | SAMN00000428 | SNP array | Probe signal intensity | Pass |
| essv5970675 | 7 | SAMN00000433 | SNP array | Probe signal intensity | Pass |
| essv6367895 | 7 | SAMN00000437 | SNP array | Probe signal intensity | Pass |
| essv6492021 | 7 | SAMN00000441 | SNP array | Probe signal intensity | Pass |
| essv5856491 | 7 | SAMN00000443 | SNP array | Probe signal intensity | Pass |
| essv6222816 | 7 | SAMN00000447 | SNP array | Probe signal intensity | Pass |
| essv6477667 | 7 | SAMN00000454 | SNP array | Probe signal intensity | Pass |
| essv5807985 | 7 | SAMN00000922 | SNP array | Probe signal intensity | Pass |
| essv6134111 | 7 | SAMN00000925 | SNP array | Probe signal intensity | Pass |
| essv5450576 | 7 | SAMN00000926 | SNP array | Probe signal intensity | Pass |
| essv6402671 | 7 | SAMN00000927 | SNP array | Probe signal intensity | Pass |
| essv5898502 | 7 | SAMN00000928 | SNP array | Probe signal intensity | Pass |
| essv5986108 | 7 | SAMN00001596 | SNP array | Probe signal intensity | Pass |
| essv5662121 | 7 | SAMN00001604 | SNP array | Probe signal intensity | Pass |
| essv6515912 | 7 | SAMN00001606 | SNP array | Probe signal intensity | Pass |
| essv6271190 | 7 | SAMN00001615 | SNP array | Probe signal intensity | Pass |
| essv6075083 | 7 | SAMN00001618 | SNP array | Probe signal intensity | Pass |
| essv6478914 | 7 | SAMN00001619 | SNP array | Probe signal intensity | Pass |