esv2663816
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:25
- Validation:Yes
- Clinical Assertions: No
- Region Size:25,384
- 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: 435 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 435 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 |
---|---|---|---|---|---|---|---|---|---|
esv2663816 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
esv2663816 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5511795 | deletion | SAMN00014330 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
essv5521129 | deletion | SAMN00001277 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 830 |
essv5597188 | deletion | SAMN00009140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,417 |
essv5617537 | deletion | SAMN00006355 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
essv5629202 | deletion | SAMN00009189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
essv5714965 | deletion | SAMN00009195 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,350 |
essv5788940 | deletion | SAMN00007714 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,155 |
essv5792378 | deletion | SAMN00006358 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,609 |
essv5809751 | deletion | SAMN00006601 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 788 |
essv5841141 | deletion | SAMN00007788 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,169 |
essv5986428 | deletion | SAMN00000453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 917 |
essv6111589 | deletion | SAMN00014314 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,733 |
essv6162917 | deletion | SAMN00007701 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,028 |
essv6183837 | deletion | SAMN00006393 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,630 |
essv6272911 | deletion | SAMN00004658 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,548 |
essv6296007 | deletion | SAMN00006397 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,554 |
essv6345986 | deletion | SAMN00001256 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 800 |
essv6374297 | deletion | SAMN00014329 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,635 |
essv6398298 | deletion | SAMN00001295 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 922 |
essv6439683 | deletion | SAMN00006416 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
essv6467936 | deletion | SAMN00001246 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 935 |
essv6491318 | deletion | SAMN00006405 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,586 |
essv6571002 | deletion | SAMN00000420 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,470 |
essv6574546 | deletion | SAMN00001294 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 761 |
essv6597253 | deletion | SAMN00009117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv5511795 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5521129 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5597188 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5617537 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5629202 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5714965 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5788940 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5792378 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5809751 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5841141 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5986428 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6111589 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6162917 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6183837 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6272911 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6296007 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6345986 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6374297 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6398298 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6439683 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6467936 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6491318 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6571002 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6574546 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv6597253 | Remapped | Perfect | NC_000003.12:g.893 44873_89370256delT | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,344,873 | 89,370,256 |
essv5511795 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5521129 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5597188 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5617537 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5629202 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5714965 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5788940 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5792378 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5809751 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5841141 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv5986428 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6111589 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6162917 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6183837 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6272911 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6296007 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6345986 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6374297 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6398298 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6439683 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6467936 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6491318 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6571002 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6574546 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 | ||
essv6597253 | Submitted genomic | NC_000003.11:g.893 94023_89419406delT | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,394,023 | 89,419,406 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6571002 | 7 | SAMN00000420 | SNP array | Probe signal intensity | Pass |
essv5986428 | 7 | SAMN00000453 | SNP array | Probe signal intensity | Pass |
essv6467936 | 7 | SAMN00001246 | SNP array | Probe signal intensity | Pass |
essv6345986 | 7 | SAMN00001256 | SNP array | Probe signal intensity | Pass |
essv5521129 | 7 | SAMN00001277 | SNP array | Probe signal intensity | Pass |
essv6574546 | 7 | SAMN00001294 | SNP array | Probe signal intensity | Pass |
essv6398298 | 7 | SAMN00001295 | SNP array | Probe signal intensity | Pass |
essv6272911 | 7 | SAMN00004658 | SNP array | Probe signal intensity | Pass |
essv5617537 | 7 | SAMN00006355 | SNP array | Probe signal intensity | Pass |
essv5792378 | 7 | SAMN00006358 | SNP array | Probe signal intensity | Pass |
essv6183837 | 7 | SAMN00006393 | SNP array | Probe signal intensity | Pass |
essv6296007 | 7 | SAMN00006397 | SNP array | Probe signal intensity | Pass |
essv6491318 | 7 | SAMN00006405 | SNP array | Probe signal intensity | Pass |
essv6439683 | 7 | SAMN00006416 | SNP array | Probe signal intensity | Pass |
essv5809751 | 7 | SAMN00006601 | SNP array | Probe signal intensity | Pass |
essv6162917 | 7 | SAMN00007701 | SNP array | Probe signal intensity | Pass |
essv5788940 | 7 | SAMN00007714 | SNP array | Probe signal intensity | Pass |
essv5841141 | 7 | SAMN00007788 | SNP array | Probe signal intensity | Pass |
essv6597253 | 7 | SAMN00009117 | SNP array | Probe signal intensity | Pass |
essv5597188 | 7 | SAMN00009140 | SNP array | Probe signal intensity | Pass |
essv5629202 | 7 | SAMN00009189 | SNP array | Probe signal intensity | Pass |
essv5714965 | 7 | SAMN00009195 | SNP array | Probe signal intensity | Pass |
essv6111589 | 7 | SAMN00014314 | SNP array | Probe signal intensity | Pass |
essv6374297 | 7 | SAMN00014329 | SNP array | Probe signal intensity | Pass |
essv5511795 | 7 | SAMN00014330 | SNP array | Probe signal intensity | Pass |