esv2522473
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,482
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan et al. 2009
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: 235 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2522473 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 98,926,312 | 98,944,793 |
| esv2522473 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 100,686,069 | 100,704,550 |
| esv2522473 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 100,676,059 | 100,694,540 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5195967 | Remapped | Perfect | NC_000010.11:g.(?_ 98926312)_(9894479 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 98,926,312 | 98,944,793 |
| essv5195967 | Remapped | Perfect | NC_000010.10:g.(?_ 100686069)_(100704 550_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 100,686,069 | 100,704,550 |
| essv5195967 | Submitted genomic | NC_000010.9:g.(?_1 00676059)_(1006945 40_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 100,676,059 | 100,694,540 |