esv3676655
- Organism: Homo sapiens
- Study:estd217 (Besenbacher et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,468
- Publication(s):Besenbacher et al. 2015
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: 378 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3676655 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 165,311,177 | 165,318,644 |
| esv3676655 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 165,724,666 | 165,732,133 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16498194 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16498194 | Remapped | Perfect | NC_000006.12:g.165 311177_165318644de l7466 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 165,311,177 | 165,318,644 |
| essv16498194 | Submitted genomic | NC_000006.11:g.165 724666_165732133de l7466 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 165,724,666 | 165,732,133 |