esv3402839
- 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:Fail
- Clinical Assertions: No
- Region Size:380,366
- 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: 965 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 965 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3402839 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,950,926 (-60, +50) | 121,331,291 (-40, +50) |
| esv3402839 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 120,286,621 (-60, +50) | 120,666,986 (-40, +50) |
| esv3402839 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 120,314,520 (-60, +50) | 120,694,885 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8835366 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8835366 | Remapped | Perfect | NC_000005.10:g.(12 0950866_120950976) _(121331251_121331 341)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,950,926 (-60, +50) | 121,331,291 (-40, +50) |
| essv8835366 | Remapped | Perfect | NC_000005.9:g.(120 286561_120286671)_ (120666946_1206670 36)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 120,286,621 (-60, +50) | 120,666,986 (-40, +50) |
| essv8835366 | Submitted genomic | NC_000005.8:g.(120 314460_120314570)_ (120694845_1206949 35)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 120,314,520 (-60, +50) | 120,694,885 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8835366 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |