esv2830328
- 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:34,091
- 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: 368 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
esv2830328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 57,198,298 | 57,232,388 |
esv2830328 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 58,064,464 | 58,098,554 |
esv2830328 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 57,759,221 | 57,793,311 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099039 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7099039 | Remapped | Perfect | NC_000004.12:g.(?_ 57198298)_(5723238 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,198,298 | 57,232,388 |
essv7099039 | Remapped | Perfect | NC_000004.11:g.(?_ 58064464)_(5809855 4_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 58,064,464 | 58,098,554 |
essv7099039 | Submitted genomic | NC_000004.10:g.(?_ 57759221)_(5779331 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 57,759,221 | 57,793,311 |