esv3370157
- 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:393,540
- 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: 888 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 889 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3370157 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,666,393 (-60, +50) | 80,059,932 (-40, +50) |
| esv3370157 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 78,921,890 (-60, +50) | 79,315,431 (-40, +50) |
| esv3370157 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 78,808,546 (-60, +50) | 79,202,087 (-40, +50) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8846473 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8846473 | Remapped | Good | NC_000023.11:g.(79 666333_79666443)_( 80059892_80059982) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,666,393 (-60, +50) | 80,059,932 (-40, +50) |
| essv8846473 | Remapped | Perfect | NC_000023.10:g.(78 921830_78921940)_( 79315391_79315481) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 78,921,890 (-60, +50) | 79,315,431 (-40, +50) |
| essv8846473 | Submitted genomic | NC_000023.9:g.(788 08486_78808596)_(7 9202047_79202137)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 78,808,546 (-60, +50) | 79,202,087 (-40, +50) |