esv5935
- 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:40,167
- 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: 314 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 77,316,415 | 77,316,460 | 77,356,352 | 77,356,581 |
| esv5935 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 78,237,568 | 78,237,613 | 78,277,505 | 78,277,734 |
| esv5935 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 78,456,592 | 78,456,637 | 78,496,529 | 78,496,758 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28376 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28376 | Remapped | Perfect | NC_000004.12:g.(77 316415_77316460)_( 77356352_77356581) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 77,316,415 | 77,316,460 | 77,356,352 | 77,356,581 |
| essv28376 | Remapped | Perfect | NC_000004.11:g.(78 237568_78237613)_( 78277505_78277734) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 78,237,568 | 78,237,613 | 78,277,505 | 78,277,734 |
| essv28376 | Submitted genomic | NC_000004.10:g.(78 456592_78456637)_( 78496529_78496758) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 78,456,592 | 78,456,637 | 78,496,529 | 78,496,758 |