esv3357831
- 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:356,874
- 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: 876 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3357831 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 144,715,064 (-60, +50) | 145,071,937 (-40, +50) |
| esv3357831 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 144,433,906 (-60, +50) | 144,790,781 (-40, +50) |
| esv3357831 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 145,916,596 (-60, +50) | 146,273,471 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8832441 | deletion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8832441 | Remapped | Good | NC_000003.12:g.(14 4715004_144715114) _(145071897_145071 987)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 144,715,064 (-60, +50) | 145,071,937 (-40, +50) |
| essv8832441 | Remapped | Perfect | NC_000003.11:g.(14 4433846_144433956) _(144790741_144790 831)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 144,433,906 (-60, +50) | 144,790,781 (-40, +50) |
| essv8832441 | Submitted genomic | NC_000003.10:g.(14 5916536_145916646) _(146273431_146273 521)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 145,916,596 (-60, +50) | 146,273,471 (-40, +50) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8832441 | 18 | SAMN00001696 | Oligo aCGH | Probe signal intensity | Fail |