esv2830304
- 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:31,941
- 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: 487 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 487 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 207 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830304 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 8,784,337 | 8,816,277 |
| esv2830304 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 8,826,023 | 8,857,963 |
| esv2830304 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 8,801,023 | 8,832,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099909 | copy number gain | SNP array | Probe signal intensity | Recurrent miscarriage | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7099909 | Remapped | Perfect | NC_000003.12:g.(?_ 8784337)_(8816277_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 8,784,337 | 8,816,277 |
| essv7099909 | Remapped | Perfect | NC_000003.11:g.(?_ 8826023)_(8857963_ ?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 8,826,023 | 8,857,963 |
| essv7099909 | Submitted genomic | NC_000003.10:g.(?_ 8801023)_(8832963_ ?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 8,801,023 | 8,832,963 |