esv3405013
- 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: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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3405013 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 144,715,064 (-40, +10) | 145,071,937 (-30, +20) |
| esv3405013 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 144,433,906 (-40, +10) | 144,790,781 (-30, +20) |
| esv3405013 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 145,916,596 (-40, +10) | 146,273,471 (-30, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv8645765 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8645765 | Remapped | Good | NC_000003.12:g.(14 4715024_144715074) _(145071907_145071 957)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 144,715,064 (-40, +10) | 145,071,937 (-30, +20) |
| essv8645765 | Remapped | Perfect | NC_000003.11:g.(14 4433866_144433916) _(144790751_144790 801)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 144,433,906 (-40, +10) | 144,790,781 (-30, +20) |
| essv8645765 | Submitted genomic | NC_000003.10:g.(14 5916556_145916606) _(146273441_146273 491)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 145,916,596 (-40, +10) | 146,273,471 (-30, +20) |