esv5974
- 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:49,968
- 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: 460 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5974 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 52,224,289 | 52,224,501 | 52,274,177 | 52,274,256 |
| esv5974 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 53,984,049 | 53,984,261 | 54,033,937 | 54,034,016 |
| esv5974 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 53,654,055 | 53,654,267 | 53,703,943 | 53,704,022 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28415 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28415 | Remapped | Perfect | NC_000010.11:g.(52 224289_52224501)_( 52274177_52274256) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,224,289 | 52,224,501 | 52,274,177 | 52,274,256 |
| essv28415 | Remapped | Perfect | NC_000010.10:g.(53 984049_53984261)_( 54033937_54034016) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,984,049 | 53,984,261 | 54,033,937 | 54,034,016 |
| essv28415 | Submitted genomic | NC_000010.9:g.(536 54055_53654267)_(5 3703943_53704022)d el | NCBI36 (hg18) | NC_000010.9 | Chr10 | 53,654,055 | 53,654,267 | 53,703,943 | 53,704,022 |