esv2830033
- 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:44,701
- 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: 220 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 16 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 |
---|---|---|---|---|---|---|---|---|---|
esv2830033 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,384,866 | 52,429,566 |
esv2830033 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 50,462,226 | 50,506,926 |
esv2830033 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 47,817,225 | 47,861,925 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099455 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7099455 | Remapped | Perfect | NC_000017.11:g.(?_ 52384866)_(5242956 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,384,866 | 52,429,566 |
essv7099455 | Remapped | Perfect | NC_000017.10:g.(?_ 50462226)_(5050692 6_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 50,462,226 | 50,506,926 |
essv7099455 | Submitted genomic | NC_000017.9:g.(?_4 7817225)_(47861925 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 47,817,225 | 47,861,925 |