esv3384271
- 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:390,825
- 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: 1123 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1123 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3384271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 91,152,280 (-40, +10) | 91,543,104 (-30, +20) |
| esv3384271 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 92,073,431 (-40, +10) | 92,464,255 (-30, +20) |
| esv3384271 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 92,292,454 (-40, +10) | 92,683,278 (-30, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv8646336 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8646336 | Remapped | Perfect | NC_000004.12:g.(91 152240_91152290)_( 91543074_91543124) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 91,152,280 (-40, +10) | 91,543,104 (-30, +20) |
| essv8646336 | Remapped | Perfect | NC_000004.11:g.(92 073391_92073441)_( 92464225_92464275) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 92,073,431 (-40, +10) | 92,464,255 (-30, +20) |
| essv8646336 | Submitted genomic | NC_000004.10:g.(92 292414_92292464)_( 92683248_92683298) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 92,292,454 (-40, +10) | 92,683,278 (-30, +20) |