esv3677449
- 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:6,469
- 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: 409 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 409 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3677449 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 110,541,908 | 110,548,376 |
| esv3677449 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 110,181,965 | 110,188,433 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16498908 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16498908 | Remapped | Perfect | NC_000007.14:g.110 541908_110548376de l6467 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 110,541,908 | 110,548,376 |
| essv16498908 | Submitted genomic | NC_000007.13:g.110 181965_110188433de l6467 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 110,181,965 | 110,188,433 |