esv3857202
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,045
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 534 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3857202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,765,757 (-500, +0) | 28,790,801 (-0, +500) |
esv3857202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,765,755 (-500, +0) | 28,790,799 (-0, +500) |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv21524769 | Remapped | Perfect | NC_000009.12:g.(28 765257_28765757)_( 28790801_28791301) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,765,757 (-500, +0) | 28,790,801 (-0, +500) |
essv21524769 | Submitted genomic | NC_000009.11:g.(28 765255_28765755)_( 28790799_28791299) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,765,755 (-500, +0) | 28,790,799 (-0, +500) |