esv3544401
- 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:3,278
- 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: 507 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3544401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,492,578 | 144,492,929 | 144,495,435 | 144,495,855 |
| esv3544401 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,717,961 | 145,718,312 | 145,720,818 | 145,721,238 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9743148 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9743148 | Remapped | Perfect | NC_000008.11:g.(14 4492578_144492929) _(144495435_144495 855)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,578 | 144,492,929 | 144,495,435 | 144,495,855 |
| essv9743148 | Submitted genomic | NC_000008.10:g.(14 5717961_145718312) _(145720818_145721 238)del3106 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,717,961 | 145,718,312 | 145,720,818 | 145,721,238 |