esv3902033
- 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:136,086
- 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: 843 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 843 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3902033 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 105,227,475 | 105,363,560 |
esv3902033 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 104,563,176 | 104,699,261 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25821134 | copy number loss | SNP array | SNP genotyping analysis | 1 |
essv25821136 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25821134 | Remapped | Perfect | NC_000005.10:g.105 227475_105363560de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 105,227,475 | 105,363,560 |
essv25821136 | Remapped | Perfect | NC_000005.10:g.105 227475_105363560de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 105,227,475 | 105,363,560 |
essv25821134 | Submitted genomic | NC_000005.9:g.1045 63176_104699261del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 104,563,176 | 104,699,261 | ||
essv25821136 | Submitted genomic | NC_000005.9:g.1045 63176_104699261del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 104,563,176 | 104,699,261 |