esv2830280
- 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:42,916
- 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: 303 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 10,640,391 | 10,683,306 |
| esv2830280 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 10,700,448 | 10,743,363 |
| esv2830280 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 10,623,035 | 10,665,950 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099004 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099004 | Remapped | Perfect | NC_000001.11:g.(?_ 10640391)_(1068330 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,640,391 | 10,683,306 |
| essv7099004 | Remapped | Perfect | NC_000001.10:g.(?_ 10700448)_(1074336 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 10,700,448 | 10,743,363 |
| essv7099004 | Submitted genomic | NC_000001.9:g.(?_1 0623035)_(10665950 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 10,623,035 | 10,665,950 |