esv33642
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:468,236
- Publication(s):de Smith et al. 2007
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: 1602 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1602 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33642 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 121,044,830 | 121,513,065 |
| esv33642 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 120,380,525 | 120,848,760 |
| esv33642 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 120,408,424 | 120,876,659 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv95229 | copy number gain | 21721 | Oligo aCGH | Probe signal intensity | 184 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv95229 | Remapped | Perfect | NC_000005.10:g.(12 0844295_121044830) _(121513065_121655 475)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,844,295 | 121,044,830 | 121,513,065 | 121,655,475 |
| essv95229 | Remapped | Perfect | NC_000005.9:g.(120 179990_120380525)_ (120848760_1209911 70)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 120,179,990 | 120,380,525 | 120,848,760 | 120,991,170 |
| essv95229 | Submitted genomic | NC_000005.8:g.(120 207889_120408424)_ (120876659_1210190 69)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 120,207,889 | 120,408,424 | 120,876,659 | 121,019,069 |