esv2830192
- 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:52,102
- 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: 234 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830192 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 133,502,041 | 133,554,142 |
| esv2830192 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 134,259,612 | 134,311,713 |
| esv2830192 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 133,976,082 | 134,028,183 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099703 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099703 | Remapped | Perfect | NC_000002.12:g.(?_ 133502041)_(133554 142_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 133,502,041 | 133,554,142 |
| essv7099703 | Remapped | Perfect | NC_000002.11:g.(?_ 134259612)_(134311 713_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 134,259,612 | 134,311,713 |
| essv7099703 | Submitted genomic | NC_000002.10:g.(?_ 133976082)_(134028 183_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 133,976,082 | 134,028,183 |