esv2830236
- 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:25,673
- 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: 224 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|
esv2830236 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 141,368,164 | 141,393,836 |
esv2830236 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 142,125,733 | 142,151,405 |
esv2830236 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 141,842,203 | 141,867,875 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Copy number |
---|---|---|---|---|---|
essv7099747 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7099747 | Remapped | Perfect | NC_000002.12:g.(?_ 141368164)_(141393 836_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 141,368,164 | 141,393,836 |
essv7099747 | Remapped | Perfect | NC_000002.11:g.(?_ 142125733)_(142151 405_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 142,125,733 | 142,151,405 |
essv7099747 | Submitted genomic | NC_000002.10:g.(?_ 141842203)_(141867 875_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 141,842,203 | 141,867,875 |