esv3435132
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117
- 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: 109 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3435132 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 70,572,233 (-113, +110) | 70,572,349 (-113, +113) |
| esv3435132 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 71,484,468 (-113, +110) | 71,484,584 (-113, +113) |
| esv3435132 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 71,647,022 (-113, +110) | 71,647,138 (-113, +113) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8677147 | insertion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8677147 | Remapped | Perfect | NC_000008.11:g.(70 572120_70572343)_( 70572236_70572462) ins259 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 70,572,233 (-113, +110) | 70,572,349 (-113, +113) |
| essv8677147 | Remapped | Perfect | NC_000008.10:g.(71 484355_71484578)_( 71484471_71484697) ins259 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 71,484,468 (-113, +110) | 71,484,584 (-113, +113) |
| essv8677147 | Submitted genomic | NC_000008.9:g.(716 46909_71647132)_(7 1647025_71647251)i ns259 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 71,647,022 (-113, +110) | 71,647,138 (-113, +113) |