esv3403823
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:423,559
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 589 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3403823 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 143,779,239 (-95, +75) | 144,202,797 (-102, +88) |
| esv3403823 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 142,862,334 (-95, +75) | 143,092,138 (-102, +88) |
| esv3403823 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004070889.1 | ChrX|NW_00 4070889.1 | 567,960 (-95, +75) | 797,753 (-102, +88) |
| esv3403823 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 142,690,000 (-95, +75) | 143,113,596 (-102, +88) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8739984 | deletion | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
| essv8739985 | deletion | SAMN00801912 | Sequencing | Paired-end mapping | 25,841 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8739984 | Remapped | Good | NC_000023.11:g.(14 3779144_143779314) _(144202695_144202 885)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 143,779,239 (-95, +75) | 144,202,797 (-102, +88) |
| essv8739985 | Remapped | Good | NC_000023.11:g.(14 3779144_143779314) _(144202695_144202 885)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 143,779,239 (-95, +75) | 144,202,797 (-102, +88) |
| essv8739984 | Remapped | Pass | NW_004070889.1:g.( 567865_568035)_(79 7651_797841)del | GRCh37.p13 | Second Pass | NW_004070889.1 | ChrX|NW_00 4070889.1 | 567,960 (-95, +75) | 797,753 (-102, +88) |
| essv8739985 | Remapped | Pass | NW_004070889.1:g.( 567865_568035)_(79 7651_797841)del | GRCh37.p13 | Second Pass | NW_004070889.1 | ChrX|NW_00 4070889.1 | 567,960 (-95, +75) | 797,753 (-102, +88) |
| essv8739984 | Remapped | Pass | NC_000023.10:g.(14 2862239_142862409) _(143092036_143092 226)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 142,862,334 (-95, +75) | 143,092,138 (-102, +88) |
| essv8739985 | Remapped | Pass | NC_000023.10:g.(14 2862239_142862409) _(143092036_143092 226)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 142,862,334 (-95, +75) | 143,092,138 (-102, +88) |
| essv8739984 | Submitted genomic | NC_000023.9:g.(142 689905_142690075)_ (143113494_1431136 84)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 142,690,000 (-95, +75) | 143,113,596 (-102, +88) | ||
| essv8739985 | Submitted genomic | NC_000023.9:g.(142 689905_142690075)_ (143113494_1431136 84)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 142,690,000 (-95, +75) | 143,113,596 (-102, +88) |