esv2830038
- 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:69,685
- 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: 383 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830038 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 42,151,244 | 42,220,928 |
| esv2830038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 39,731,208 | 39,800,893 |
| esv2830038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 37,985,206 | 38,054,891 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099467 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099467 | Remapped | Good | NC_000018.10:g.(?_ 42151244)_(4222092 8_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 42,151,244 | 42,220,928 |
| essv7099467 | Remapped | Perfect | NC_000018.9:g.(?_3 9731208)_(39800893 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 39,731,208 | 39,800,893 |
| essv7099467 | Submitted genomic | NC_000018.8:g.(?_3 7985206)_(38054891 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 37,985,206 | 38,054,891 |