esv275401
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,864
- 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: 82 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 41,227,493 | 41,228,025 | 41,238,318 | 41,238,356 |
| esv275401 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 41,268,984 | 41,269,516 | 41,279,809 | 41,279,847 |
| esv275401 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 41,243,988 | 41,244,520 | 41,254,813 | 41,254,851 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585683 | copy number gain | SNP array | Other |
| essv2585794 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585683 | Remapped | Perfect | NC_000003.12:g.(41 227493_41228025)_( 41238318_41238356) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,227,493 | 41,228,025 | 41,238,318 | 41,238,356 |
| essv2585794 | Remapped | Perfect | NC_000003.12:g.(41 227493_41228025)_( 41238318_41238356) del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 41,227,493 | 41,228,025 | 41,238,318 | 41,238,356 |
| essv2585683 | Remapped | Perfect | NC_000003.11:g.(41 268984_41269516)_( 41279809_41279847) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,268,984 | 41,269,516 | 41,279,809 | 41,279,847 |
| essv2585794 | Remapped | Perfect | NC_000003.11:g.(41 268984_41269516)_( 41279809_41279847) del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 41,268,984 | 41,269,516 | 41,279,809 | 41,279,847 |
| essv2585683 | Submitted genomic | NC_000003.10:g.(41 243988_41244520)_( 41254813_41254851) dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,243,988 | 41,244,520 | 41,254,813 | 41,254,851 | ||
| essv2585794 | Submitted genomic | NC_000003.10:g.(41 243988_41244520)_( 41254813_41254851) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 41,243,988 | 41,244,520 | 41,254,813 | 41,254,851 |