esv2624135
- 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:18,323
- 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: 177 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2624135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,981,886 | 27,000,208 |
| esv2624135 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 26,949,665 | 26,967,987 |
| esv2624135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 27,057,644 | 27,075,966 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5367864 | Remapped | Perfect | NC_000006.12:g.(?_ 26981886)_(2700020 8_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,981,886 | 27,000,208 |
| essv5367864 | Remapped | Perfect | NC_000006.11:g.(?_ 26949665)_(2696798 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,949,665 | 26,967,987 |
| essv5367864 | Submitted genomic | NC_000006.10:g.(?_ 27057644)_(2707596 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 27,057,644 | 27,075,966 |