esv2467858
- 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:4,207
- 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: 357 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2467858 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 219,187,483 | 219,191,689 |
| esv2467858 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 220,052,205 | 220,056,411 |
| esv2467858 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 219,760,449 | 219,764,655 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5392997 | Remapped | Perfect | NC_000002.12:g.(?_ 219187483)_(219191 689_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 219,187,483 | 219,191,689 |
| essv5392997 | Remapped | Perfect | NC_000002.11:g.(?_ 220052205)_(220056 411_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 220,052,205 | 220,056,411 |
| essv5392997 | Submitted genomic | NC_000002.10:g.(?_ 219760449)_(219764 655_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 219,760,449 | 219,764,655 |