esv33408
- 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:39,243
- 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: 239 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33408 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 80,672,232 | 80,711,474 |
| esv33408 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 80,706,129 | 80,745,371 |
| esv33408 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 79,263,630 | 79,302,872 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv97581 | copy number loss | 21616 | Oligo aCGH | Probe signal intensity | 158 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv97581 | Remapped | Perfect | NC_000016.10:g.(80 554514_80672232)_( 80711474_80711925) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 80,554,514 | 80,672,232 | 80,711,474 | 80,711,925 |
| essv97581 | Remapped | Perfect | NC_000016.9:g.(805 88411_80706129)_(8 0745371_80745822)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 80,588,411 | 80,706,129 | 80,745,371 | 80,745,822 |
| essv97581 | Submitted genomic | NC_000016.8:g.(791 45912_79263630)_(7 9302872_79303323)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 79,145,912 | 79,263,630 | 79,302,872 | 79,303,323 |