esv3558898
- 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:61,287
- 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: 474 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 473 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3558898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 57,151,781 | 57,152,068 | 57,212,773 | 57,213,067 |
| esv3558898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 57,178,214 | 57,178,501 | 57,239,206 | 57,239,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9757645 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9757645 | Remapped | Perfect | NC_000023.11:g.(57 151781_57152068)_( 57212773_57213067) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 57,151,781 | 57,152,068 | 57,212,773 | 57,213,067 |
| essv9757645 | Submitted genomic | NC_000023.10:g.(57 178214_57178501)_( 57239206_57239500) del60978 | GRCh37 (hg19) | NC_000023.10 | ChrX | 57,178,214 | 57,178,501 | 57,239,206 | 57,239,500 |