esv275516
- 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:12,273
- 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: 87 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 167,223,301 | 167,232,116 | 167,232,811 | 167,235,573 |
| esv275516 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 166,650,306 | 166,659,121 | 166,659,816 | 166,662,578 |
| esv275516 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 166,582,884 | 166,591,699 | 166,592,394 | 166,595,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585886 | copy number gain | SNP array | Other |
| essv2586050 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585886 | Remapped | Perfect | NC_000005.10:g.(16 7223301_167232116) _(167232811_167235 573)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 167,223,301 | 167,232,116 | 167,232,811 | 167,235,573 |
| essv2586050 | Remapped | Perfect | NC_000005.10:g.(16 7223301_167232116) _(167232811_167235 573)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 167,223,301 | 167,232,116 | 167,232,811 | 167,235,573 |
| essv2585886 | Remapped | Perfect | NC_000005.9:g.(166 650306_166659121)_ (166659816_1666625 78)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 166,650,306 | 166,659,121 | 166,659,816 | 166,662,578 |
| essv2586050 | Remapped | Perfect | NC_000005.9:g.(166 650306_166659121)_ (166659816_1666625 78)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 166,650,306 | 166,659,121 | 166,659,816 | 166,662,578 |
| essv2585886 | Submitted genomic | NC_000005.8:g.(166 582884_166591699)_ (166592394_1665951 56)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 166,582,884 | 166,591,699 | 166,592,394 | 166,595,156 | ||
| essv2586050 | Submitted genomic | NC_000005.8:g.(166 582884_166591699)_ (166592394_1665951 56)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 166,582,884 | 166,591,699 | 166,592,394 | 166,595,156 |