esv2830064
- Organism: Homo sapiens
- Study:estd206 (Nagirnaja et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,086
- Description:FREQ_IN_CASES=1/43
- Publication(s):Nagirnaja et al. 2014
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: 504 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 504 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2830064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 19,933,455 | 19,967,540 |
| esv2830064 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 21,305,769 | 21,339,854 |
| esv2830064 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 20,227,640 | 20,261,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099501 | copy number loss | SNP array | Probe signal intensity | Recurrent miscarriage | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099501 | Remapped | Perfect | NC_000021.9:g.(?_1 9933455)_(19967540 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 19,933,455 | 19,967,540 |
| essv7099501 | Remapped | Perfect | NC_000021.8:g.(?_2 1305769)_(21339854 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 21,305,769 | 21,339,854 |
| essv7099501 | Submitted genomic | NC_000021.7:g.(?_2 0227640)_(20261725 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 20,227,640 | 20,261,725 |