esv3680730
- 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:9,743
- 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: 423 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 423 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3680730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 8,405,889 | 8,415,631 |
| esv3680730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 8,558,485 | 8,568,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16501861 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16501861 | Remapped | Perfect | NC_000012.12:g.840 5889_8415631del974 1 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 8,405,889 | 8,415,631 |
| essv16501861 | Submitted genomic | NC_000012.11:g.855 8485_8568227del974 1 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,558,485 | 8,568,227 |