esv2756827
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,322
- 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: 353 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 365 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2756827 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 44,389,939 | 44,443,260 |
| esv2756827 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 44,894,102 | 44,947,444 |
| esv2756827 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 49,585,942 | 49,639,284 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv13357 | Remapped | Good | NC_000019.10:g.(44 389939_44389939)_( 44439297_44439297) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 44,389,939 | 44,389,939 | 44,439,297 | 44,439,297 |
| essv16586 | Remapped | Good | NC_000019.10:g.(44 389939_44389939)_( 44443260_44443260) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 44,389,939 | 44,389,939 | 44,443,260 | 44,443,260 |
| essv13357 | Remapped | Perfect | NC_000019.9:g.(448 94102_44899473)_(4 4930803_44943480)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 44,894,102 | 44,899,473 | 44,930,803 | 44,943,480 |
| essv16586 | Remapped | Perfect | NC_000019.9:g.(448 94102_44899473)_(4 4930803_44947444)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 44,894,102 | 44,899,473 | 44,930,803 | 44,947,444 |
| essv13357 | Submitted genomic | NC_000019.8:g.(495 85942_49591313)_(4 9622643_49635320)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 49,585,942 | 49,591,313 | 49,622,643 | 49,635,320 | ||
| essv16586 | Submitted genomic | NC_000019.8:g.(495 85942_49591313)_(4 9622643_49639284)d el | NCBI35 (hg17) | NC_000019.8 | Chr19 | 49,585,942 | 49,591,313 | 49,622,643 | 49,639,284 |