esv275008
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,480
- Publication(s):Banerjee et al. 2011
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: 156 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv275008 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 53,968,925 | 53,969,358 | 53,974,543 | 53,982,404 |
esv275008 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 54,434,598 | 54,435,031 | 54,440,216 | 54,448,077 |
esv275008 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 54,207,186 | 54,207,619 | 54,212,804 | 54,220,665 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv2585314 | copy number loss | SNP array | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv2585314 | Remapped | Perfect | NC_000001.11:g.(53 968925_53969358)_( 53974543_53982404) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 53,968,925 | 53,969,358 | 53,974,543 | 53,982,404 |
essv2585314 | Remapped | Perfect | NC_000001.10:g.(54 434598_54435031)_( 54440216_54448077) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 54,434,598 | 54,435,031 | 54,440,216 | 54,448,077 |
essv2585314 | Submitted genomic | NC_000001.9:g.(542 07186_54207619)_(5 4212804_54220665)d el | NCBI36 (hg18) | NC_000001.9 | Chr1 | 54,207,186 | 54,207,619 | 54,212,804 | 54,220,665 |