esv2661457
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Yes
- Clinical Assertions: No
- Region Size:16,340
- 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: 336 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 62 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv2661457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
esv2661457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5404152 | deletion | SAMN00000568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,629 |
essv5453886 | deletion | SAMN00007743 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,615 |
essv5963441 | deletion | SAMN00001168 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,626 |
essv6052861 | deletion | SAMN00009136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,371 |
essv6296410 | deletion | SAMN00007734 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,582 |
essv6307326 | deletion | SAMN00001183 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,354 |
essv6370262 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
essv6451937 | deletion | SAMN00001230 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 950 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5404152 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv5453886 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv5963441 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv6052861 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv6296410 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv6307326 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv6370262 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv6451937 | Remapped | Perfect | NC_000007.14:g.102 711119_102727458de lT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,711,119 | 102,727,458 |
essv5404152 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv5453886 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv5963441 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv6052861 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv6296410 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv6307326 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv6370262 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 | ||
essv6451937 | Submitted genomic | NC_000007.13:g.102 351566_102367905de lT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,351,566 | 102,367,905 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv5404152 | 9 | SAMN00000568 | Oligo aCGH | Probe signal intensity | Pass |
essv6370262 | 9 | SAMN00001120 | Oligo aCGH | Probe signal intensity | Pass |
essv5963441 | 9 | SAMN00001168 | Oligo aCGH | Probe signal intensity | Pass |
essv6307326 | 9 | SAMN00001183 | Oligo aCGH | Probe signal intensity | Pass |
essv6451937 | 9 | SAMN00001230 | Oligo aCGH | Probe signal intensity | Pass |
essv6296410 | 9 | SAMN00007734 | Oligo aCGH | Probe signal intensity | Pass |
essv5453886 | 9 | SAMN00007743 | Oligo aCGH | Probe signal intensity | Pass |
essv6052861 | 9 | SAMN00009136 | Oligo aCGH | Probe signal intensity | Pass |
essv5404152 | 7 | SAMN00000568 | SNP array | Probe signal intensity | Pass |
essv6370262 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
essv5963441 | 7 | SAMN00001168 | SNP array | Probe signal intensity | Pass |
essv6307326 | 7 | SAMN00001183 | SNP array | Probe signal intensity | Pass |
essv6451937 | 7 | SAMN00001230 | SNP array | Probe signal intensity | Pass |
essv6296410 | 7 | SAMN00007734 | SNP array | Probe signal intensity | Pass |
essv5453886 | 7 | SAMN00007743 | SNP array | Probe signal intensity | Pass |
essv6052861 | 7 | SAMN00009136 | SNP array | Probe signal intensity | Pass |