esv33576
- 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:491
- 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: 497 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 497 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv33576 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 186,168,864 | 186,169,354 |
| esv33576 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 187,090,018 | 187,090,508 |
| esv33576 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 187,465,167 | 187,465,657 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv99997 | copy number gain | 22086 | Oligo aCGH | Probe signal intensity | 362 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv99997 | Remapped | Perfect | NC_000004.12:g.(18 6168088_186168864) _(186169354_186169 774)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,168,088 | 186,168,864 | 186,169,354 | 186,169,774 |
| essv99997 | Remapped | Perfect | NC_000004.11:g.(18 7089242_187090018) _(187090508_187090 928)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 187,089,242 | 187,090,018 | 187,090,508 | 187,090,928 |
| essv99997 | Submitted genomic | NC_000004.9:g.(187 464391_187465167)_ (187465657_1874660 77)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 187,464,391 | 187,465,167 | 187,465,657 | 187,466,077 |