esv3328353
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:479
- 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: 99 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3328353 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,518,172 (-710, +479) | 117,518,650 (-479, +1010) |
| esv3328353 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 117,158,226 (-710, +479) | 117,158,704 (-479, +1010) |
| esv3328353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 116,945,462 (-710, +479) | 116,945,940 (-479, +1010) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8801573 | deletion | SAMN00801888 | Sequencing | Read depth | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8801573 | Remapped | Perfect | NC_000007.14:g.(11 7517462_117518651) _(117518171_117519 660)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,518,172 (-710, +479) | 117,518,650 (-479, +1010) |
| essv8801573 | Remapped | Perfect | NC_000007.13:g.(11 7157516_117158705) _(117158225_117159 714)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 117,158,226 (-710, +479) | 117,158,704 (-479, +1010) |
| essv8801573 | Submitted genomic | NC_000007.12:g.(11 6944752_116945941) _(116945461_116946 950)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 116,945,462 (-710, +479) | 116,945,940 (-479, +1010) |