esv3424394
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20
- 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: 272 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3424394 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,162,073 (-23, +23) | 11,162,092 (-23, +23) |
| esv3424394 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 13,317,749 (-23, +23) | 13,317,768 (-23, +23) |
| esv3424394 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 11,777,749 (-23, +23) | 11,777,768 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9682236 | insertion | SAMN00801317 | Sequencing | Split read mapping | 13,343 |
| essv9682247 | insertion | SAMN00801103 | Sequencing | Split read mapping | 9,141 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9682236 | Remapped | Perfect | NC_000024.10:g.(11 162050_11162096)_( 11162069_11162115) ins1000 | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,162,073 (-23, +23) | 11,162,092 (-23, +23) |
| essv9682247 | Remapped | Perfect | NC_000024.10:g.(11 162050_11162096)_( 11162069_11162115) ins1000 | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,162,073 (-23, +23) | 11,162,092 (-23, +23) |
| essv9682236 | Remapped | Perfect | NC_000024.9:g.(133 17726_13317772)_(1 3317745_13317791)i ns1000 | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,317,749 (-23, +23) | 13,317,768 (-23, +23) |
| essv9682247 | Remapped | Perfect | NC_000024.9:g.(133 17726_13317772)_(1 3317745_13317791)i ns1000 | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,317,749 (-23, +23) | 13,317,768 (-23, +23) |
| essv9682236 | Submitted genomic | NC_000024.8:g.(117 77726_11777772)_(1 1777745_11777791)i ns1000 | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,777,749 (-23, +23) | 11,777,768 (-23, +23) | ||
| essv9682247 | Submitted genomic | NC_000024.8:g.(117 77726_11777772)_(1 1777745_11777791)i ns1000 | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,777,749 (-23, +23) | 11,777,768 (-23, +23) |