esv2630920
- 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:24,719
- 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: 481 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 481 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 213 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2630920 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 76,727,161 | 76,751,879 |
| esv2630920 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 77,436,878 | 77,461,596 |
| esv2630920 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 77,493,597 | 77,518,315 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5392123 | Remapped | Perfect | NC_000006.12:g.(?_ 76727161)_(7675187 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,161 | 76,751,879 |
| essv5392123 | Remapped | Perfect | NC_000006.11:g.(?_ 77436878)_(7746159 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 77,436,878 | 77,461,596 |
| essv5392123 | Submitted genomic | NC_000006.10:g.(?_ 77493597)_(7751831 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 77,493,597 | 77,518,315 |