esv2829972
- 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:32,250
- 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: 216 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2829972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 59,685,623 | 59,717,872 |
| esv2829972 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 60,079,404 | 60,111,653 |
| esv2829972 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 58,365,671 | 58,397,920 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
|---|---|---|---|---|---|
| essv7099358 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7099358 | Remapped | Perfect | NC_000012.12:g.(?_ 59685623)_(5971787 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 59,685,623 | 59,717,872 |
| essv7099358 | Remapped | Perfect | NC_000012.11:g.(?_ 60079404)_(6011165 3_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 60,079,404 | 60,111,653 |
| essv7099358 | Submitted genomic | NC_000012.10:g.(?_ 58365671)_(5839792 0_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 58,365,671 | 58,397,920 |