esv3888610
- 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:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,628
- 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: 627 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 628 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3888610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| esv3888610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25266309 | deletion | HG00154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,446 |
| essv25266310 | deletion | HG00361 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,647 |
| essv25266311 | deletion | HG01366 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,679 |
| essv25266312 | deletion | HG03015 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,599 |
| essv25266313 | deletion | HG03511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,980 |
| essv25266314 | deletion | NA18520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,716 |
| essv25266315 | deletion | NA19332 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,777 |
| essv25266316 | deletion | NA20506 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,161 |
| essv25266317 | deletion | NA20530 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,153 |
| essv25266318 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25266309 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266310 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266311 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266312 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266313 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266314 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266315 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266316 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266317 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266318 | Remapped | Perfect | NC_000023.11:g.(32 911121_32911171)_( 32951748_32951798) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,911,146 (-25, +25) | 32,951,773 (-25, +25) |
| essv25266309 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266310 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266311 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266312 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266313 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266314 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266315 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266316 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266317 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) | ||
| essv25266318 | Submitted genomic | NC_000023.10:g.(32 929238_32929288)_( 32969865_32969915) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,929,263 (-25, +25) | 32,969,890 (-25, +25) |