esv2830225
- 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:62,432
- 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: 337 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 108 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 |
---|---|---|---|---|---|---|---|---|---|
esv2830225 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 140,072,139 | 140,134,570 |
esv2830225 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 140,829,708 | 140,892,139 |
esv2830225 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 140,546,178 | 140,608,609 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099736 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7099736 | Remapped | Perfect | NC_000002.12:g.(?_ 140072139)_(140134 570_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 140,072,139 | 140,134,570 |
essv7099736 | Remapped | Perfect | NC_000002.11:g.(?_ 140829708)_(140892 139_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 140,829,708 | 140,892,139 |
essv7099736 | Submitted genomic | NC_000002.10:g.(?_ 140546178)_(140608 609_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 140,546,178 | 140,608,609 |