esv2830344
- 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:50,202
- 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: 664 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 664 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830344 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 161,032,271 | 161,082,472 |
| esv2830344 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 161,953,423 | 162,003,624 |
| esv2830344 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 162,172,873 | 162,223,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099074 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099074 | Remapped | Perfect | NC_000004.12:g.(?_ 161032271)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,032,271 | 161,082,472 |
| essv7099074 | Remapped | Perfect | NC_000004.11:g.(?_ 161953423)_(162003 624_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 161,953,423 | 162,003,624 |
| essv7099074 | Submitted genomic | NC_000004.10:g.(?_ 162172873)_(162223 074_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 162,172,873 | 162,223,074 |