esv3888204
- 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:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:151,122
- 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: 903 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 904 SVs from 48 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3888204 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
esv3888204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25167448 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
essv25167449 | deletion | HG00361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
essv25167450 | deletion | HG01366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,679 |
essv25167451 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
essv25167452 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
essv25167453 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
essv25167454 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
essv25167455 | deletion | NA20533 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,922 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25167448 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167449 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167450 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167451 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167452 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167453 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167454 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167455 | Remapped | Perfect | NC_000023.11:g.(82 28920_8230420)_(83 80541_8382041)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,229,920 (-1000, +500) | 8,381,041 (-500, +1000) |
essv25167448 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167449 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167450 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167451 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167452 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167453 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167454 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) | ||
essv25167455 | Submitted genomic | NC_000023.10:g.(81 96961_8198461)_(83 48582_8350082)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,197,961 (-1000, +500) | 8,349,082 (-500, +1000) |