esv3888173
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:256,713
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 1504 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1505 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3888173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| esv3888173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25165631 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
| essv25165632 | deletion | HG00180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,031 |
| essv25165633 | deletion | HG00361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv25165634 | deletion | HG01366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,679 |
| essv25165635 | deletion | HG01863 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,290 |
| essv25165636 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25165637 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
| essv25165638 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv25165639 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
| essv25165640 | deletion | NA20533 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,922 |
| essv25165641 | deletion | NA20852 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,652 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25165631 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165632 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165633 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165634 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165635 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165636 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165637 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165638 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165639 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165640 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165641 | Remapped | Perfect | NC_000023.11:g.(66 34745_6636245)_(68 91957_6893457)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,635,745 (-1000, +500) | 6,892,457 (-500, +1000) |
| essv25165631 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165632 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165633 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165634 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165635 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165636 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165637 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165638 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165639 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165640 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) | ||
| essv25165641 | Submitted genomic | NC_000023.10:g.(65 52786_6554286)_(68 09998_6811498)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 6,553,786 (-1000, +500) | 6,810,498 (-500, +1000) |