esv2530911
- 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:23,379
- 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: 329 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 329 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 156 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2530911 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 160,611,425 | 160,634,803 |
| esv2530911 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 161,032,457 | 161,055,835 |
| esv2530911 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 160,952,447 | 160,975,825 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5367223 | Remapped | Perfect | NC_000006.12:g.(16 0611425_?)_(?_1606 34803)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,611,425 | 160,634,803 |
| essv5367223 | Remapped | Perfect | NC_000006.11:g.(16 1032457_?)_(?_1610 55835)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,032,457 | 161,055,835 |
| essv5367223 | Submitted genomic | NC_000006.10:g.(16 0952447_?)_(?_1609 75825)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 160,952,447 | 160,975,825 |