esv275029
- 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:10,703
- 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: 163 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275029 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 54,705,595 | 54,705,609 | 54,716,275 | 54,716,297 |
| esv275029 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 55,571,761 | 55,571,775 | 55,582,441 | 55,582,463 |
| esv275029 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 55,266,518 | 55,266,532 | 55,277,198 | 55,277,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585357 | copy number loss | SNP array | Other |
| essv2585733 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585357 | Remapped | Perfect | NC_000004.12:g.(54 705595_54705609)_( 54716275_54716297) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 54,705,595 | 54,705,609 | 54,716,275 | 54,716,297 |
| essv2585733 | Remapped | Perfect | NC_000004.12:g.(54 705595_54705609)_( 54716275_54716297) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 54,705,595 | 54,705,609 | 54,716,275 | 54,716,297 |
| essv2585357 | Remapped | Perfect | NC_000004.11:g.(55 571761_55571775)_( 55582441_55582463) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 55,571,761 | 55,571,775 | 55,582,441 | 55,582,463 |
| essv2585733 | Remapped | Perfect | NC_000004.11:g.(55 571761_55571775)_( 55582441_55582463) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 55,571,761 | 55,571,775 | 55,582,441 | 55,582,463 |
| essv2585357 | Submitted genomic | NC_000004.10:g.(55 266518_55266532)_( 55277198_55277220) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 55,266,518 | 55,266,532 | 55,277,198 | 55,277,220 | ||
| essv2585733 | Submitted genomic | NC_000004.10:g.(55 266518_55266532)_( 55277198_55277220) dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 55,266,518 | 55,266,532 | 55,277,198 | 55,277,220 |