esv2757979
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:210,896
- Publication(s):Redon et al. 2006
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: 1244 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1244 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2757979 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 3,576,505 | 3,787,400 |
| esv2757979 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 3,576,619 | 3,787,514 |
| esv2757979 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 3,629,619 | 3,840,514 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv17326 | copy number loss | NA18856 | BAC aCGH | Probe signal intensity | 100 |
| essv4162 | copy number loss | NA18555 | BAC aCGH | Probe signal intensity | 83 |
| essv5066 | copy number loss | NA18576 | BAC aCGH | Probe signal intensity | 66 |
| essv9980 | copy number loss | NA19099 | BAC aCGH | Probe signal intensity | 138 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv17326 | Remapped | Perfect | NC_000005.10:g.(?_ 3576505)_(3787400_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 3,576,505 | 3,787,400 |
| essv4162 | Remapped | Perfect | NC_000005.10:g.(?_ 3576505)_(3787400_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 3,576,505 | 3,787,400 |
| essv5066 | Remapped | Perfect | NC_000005.10:g.(?_ 3576505)_(3787400_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 3,576,505 | 3,787,400 |
| essv9980 | Remapped | Perfect | NC_000005.10:g.(?_ 3576505)_(3787400_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 3,576,505 | 3,787,400 |
| essv17326 | Remapped | Perfect | NC_000005.9:g.(?_3 576619)_(3787514_? )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 3,576,619 | 3,787,514 |
| essv4162 | Remapped | Perfect | NC_000005.9:g.(?_3 576619)_(3787514_? )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 3,576,619 | 3,787,514 |
| essv5066 | Remapped | Perfect | NC_000005.9:g.(?_3 576619)_(3787514_? )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 3,576,619 | 3,787,514 |
| essv9980 | Remapped | Perfect | NC_000005.9:g.(?_3 576619)_(3787514_? )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 3,576,619 | 3,787,514 |
| essv17326 | Submitted genomic | NC_000005.8:g.(?_3 629619)_(3840514_? )del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 3,629,619 | 3,840,514 | ||
| essv4162 | Submitted genomic | NC_000005.8:g.(?_3 629619)_(3840514_? )del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 3,629,619 | 3,840,514 | ||
| essv5066 | Submitted genomic | NC_000005.8:g.(?_3 629619)_(3840514_? )del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 3,629,619 | 3,840,514 | ||
| essv9980 | Submitted genomic | NC_000005.8:g.(?_3 629619)_(3840514_? )del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 3,629,619 | 3,840,514 |