esv3901102
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,408
- Publication(s):Magnusson et al. 2016
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: 1270 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 982 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1270 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3901102 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 31,158,049 | 31,217,456 |
| esv3901102 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 48,843 | 108,250 |
| esv3901102 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 31,310,983 | 31,370,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25822021 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25822022 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25822021 | Remapped | Perfect | NT_187587.1:g.4884 3_108250dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 48,843 | 108,250 |
| essv25822022 | Remapped | Perfect | NT_187587.1:g.4884 3_108250dup | GRCh38.p12 | Second Pass | NT_187587.1 | Chr12|NT_1 87587.1 | 48,843 | 108,250 |
| essv25822021 | Remapped | Perfect | NC_000012.12:g.311 58049_31217456dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,158,049 | 31,217,456 |
| essv25822022 | Remapped | Perfect | NC_000012.12:g.311 58049_31217456dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 31,158,049 | 31,217,456 |
| essv25822021 | Submitted genomic | NC_000012.11:g.313 10983_31370390dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,310,983 | 31,370,390 | ||
| essv25822022 | Submitted genomic | NC_000012.11:g.313 10983_31370390dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 31,310,983 | 31,370,390 |