esv3395599
- 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:356,032
- 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: 1019 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1019 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3395599 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 5,455,052 (-60, +50) | 5,811,083 (-40, +50) |
| esv3395599 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 5,373,093 (-60, +50) | 5,729,124 (-40, +50) |
| esv3395599 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 5,383,093 (-60, +50) | 5,739,124 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8846352 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8846352 | Remapped | Perfect | NC_000023.11:g.(54 54992_5455102)_(58 11043_5811133)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 5,455,052 (-60, +50) | 5,811,083 (-40, +50) |
| essv8846352 | Remapped | Perfect | NC_000023.10:g.(53 73033_5373143)_(57 29084_5729174)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 5,373,093 (-60, +50) | 5,729,124 (-40, +50) |
| essv8846352 | Submitted genomic | NC_000023.9:g.(538 3033_5383143)_(573 9084_5739174)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 5,383,093 (-60, +50) | 5,739,124 (-40, +50) |