esv2484852
- 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:11,198
- 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: 226 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2484852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 62,302,230 | 62,313,427 |
| esv2484852 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 63,214,789 | 63,225,986 |
| esv2484852 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 63,377,343 | 63,388,540 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5313110 | Remapped | Perfect | NC_000008.11:g.(62 302230_?)_(?_62313 427)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 62,302,230 | 62,313,427 |
| essv5313110 | Remapped | Perfect | NC_000008.10:g.(63 214789_?)_(?_63225 986)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 63,214,789 | 63,225,986 |
| essv5313110 | Submitted genomic | NC_000008.9:g.(633 77343_?)_(?_633885 40)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 63,377,343 | 63,388,540 |