esv2607475
- 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:52,282
- 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: 328 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 328 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2607475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 15,664,574 | 15,716,855 |
| esv2607475 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 15,664,805 | 15,717,086 |
| esv2607475 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 15,772,784 | 15,825,065 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5353411 | Remapped | Perfect | NC_000006.12:g.(?_ 15664574)_(1571685 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 15,664,574 | 15,716,855 |
| essv5353411 | Remapped | Perfect | NC_000006.11:g.(?_ 15664805)_(1571708 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 15,664,805 | 15,717,086 |
| essv5353411 | Submitted genomic | NC_000006.10:g.(?_ 15772784)_(1582506 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 15,772,784 | 15,825,065 |