esv2830335
- 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:189,342
- 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: 555 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 170 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 |
---|---|---|---|---|---|---|---|---|---|
esv2830335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 93,518,875 | 93,708,216 |
esv2830335 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 94,440,026 | 94,629,367 |
esv2830335 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 94,659,049 | 94,848,390 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099061 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7099061 | Remapped | Perfect | NC_000004.12:g.(?_ 93518875)_(9370821 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 93,518,875 | 93,708,216 |
essv7099061 | Remapped | Perfect | NC_000004.11:g.(?_ 94440026)_(9462936 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 94,440,026 | 94,629,367 |
essv7099061 | Submitted genomic | NC_000004.10:g.(?_ 94659049)_(9484839 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 94,659,049 | 94,848,390 |