esv2490652
- 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:14,274
- Description:originalFile=Yoruban_large_indels_8.4x.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: 425 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 169 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2490652 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 73,598,145 | 73,612,418 |
| esv2490652 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 72,817,981 | 72,832,253 |
| esv2490652 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 72,734,706 | 72,748,978 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5307259 | Remapped | Good | NC_000023.11:g.(73 598145_?)_(?_73612 418)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 73,598,145 | 73,612,418 |
| essv5307259 | Remapped | Perfect | NC_000023.10:g.(72 817981_?)_(?_72832 253)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 72,817,981 | 72,832,253 |
| essv5307259 | Submitted genomic | NC_000023.9:g.(727 34706_?)_(?_727489 78)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 72,734,706 | 72,748,978 |