esv2830181
- 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:96,691
- 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: 431 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 431 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 111 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2830181 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 116,218,490 | 116,315,180 |
| esv2830181 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 116,976,066 | 117,072,756 |
| esv2830181 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 116,692,536 | 116,789,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099692 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099692 | Remapped | Perfect | NC_000002.12:g.(?_ 116218490)_(116315 180_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 116,218,490 | 116,315,180 |
| essv7099692 | Remapped | Perfect | NC_000002.11:g.(?_ 116976066)_(117072 756_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 116,976,066 | 117,072,756 |
| essv7099692 | Submitted genomic | NC_000002.10:g.(?_ 116692536)_(116789 226_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 116,692,536 | 116,789,226 |