esv3567757
- Organism: Homo sapiens
- Study:estd215 (GoNL)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45
- Publication(s):Boomsma et al. 2013
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: 92 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3567757 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 46,941,422 | 46,941,465 | 46,941,466 |
| esv3567757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 46,909,159 | 46,909,202 | 46,909,203 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9766504 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv9766504 | Remapped | Perfect | NC_000006.12:g.469 41422_(46941465_46 941466)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 46,941,422 | 46,941,465 | 46,941,466 |
| essv9766504 | Submitted genomic | NC_000006.11:g.469 09159_(46909202_46 909203)del44 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 46,909,159 | 46,909,202 | 46,909,203 |