esv32557
- 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:54,868
- 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: 234 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 137,186,345 | 137,241,212 |
| esv32557 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 137,507,482 | 137,562,349 |
| esv32557 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 137,549,175 | 137,604,042 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv99460 | copy number loss | 22335 | Oligo aCGH | Probe signal intensity | 206 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv99460 | Remapped | Perfect | NC_000006.12:g.(13 7176602_137186345) _(137241212_137246 454)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 137,176,602 | 137,186,345 | 137,241,212 | 137,246,454 |
| essv99460 | Remapped | Perfect | NC_000006.11:g.(13 7497739_137507482) _(137562349_137567 591)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 137,497,739 | 137,507,482 | 137,562,349 | 137,567,591 |
| essv99460 | Submitted genomic | NC_000006.9:g.(137 539432_137549175)_ (137604042_1376092 84)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 137,539,432 | 137,549,175 | 137,604,042 | 137,609,284 |