esv8521
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:222
- Publication(s):Ahn et al. 2009
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: 112 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 42 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv8521 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 111,910,409 | 111,910,474 | 111,910,572 | 111,910,630 |
| esv8521 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 113,670,167 | 113,670,232 | 113,670,330 | 113,670,388 |
| esv8521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 113,660,157 | 113,660,222 | 113,660,320 | 113,660,378 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30962 | copy number gain | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30962 | Remapped | Perfect | NC_000010.11:g.(11 1910409_111910474) _(111910572_111910 630)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 111,910,409 | 111,910,474 | 111,910,572 | 111,910,630 |
| essv30962 | Remapped | Perfect | NC_000010.10:g.(11 3670167_113670232) _(113670330_113670 388)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 113,670,167 | 113,670,232 | 113,670,330 | 113,670,388 |
| essv30962 | Submitted genomic | NC_000010.9:g.(113 660157_113660222)_ (113660320_1136603 78)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 113,660,157 | 113,660,222 | 113,660,320 | 113,660,378 |