esv2536377
- 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:10,990
- 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: 357 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2536377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 72,153,817 | 72,164,806 |
| esv2536377 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 72,863,520 | 72,874,509 |
| esv2536377 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 72,920,241 | 72,931,230 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5389586 | Remapped | Perfect | NC_000006.12:g.(72 153817_?)_(?_72164 806)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 72,153,817 | 72,164,806 |
| essv5389586 | Remapped | Perfect | NC_000006.11:g.(72 863520_?)_(?_72874 509)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 72,863,520 | 72,874,509 |
| essv5389586 | Submitted genomic | NC_000006.10:g.(72 920241_?)_(?_72931 230)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 72,920,241 | 72,931,230 |