esv3675297
- Organism: Homo sapiens
- Study:estd217 (Besenbacher et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,264
- Publication(s):Besenbacher et al. 2015
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: 325 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3675297 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 13,416,479 | 13,422,742 |
| esv3675297 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 13,416,591 | 13,422,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16496971 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16496971 | Remapped | Perfect | NC_000005.10:g.134 16479_13422742del6 262 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 13,416,479 | 13,422,742 |
| essv16496971 | Submitted genomic | NC_000005.9:g.1341 6591_13422854del62 62 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,416,591 | 13,422,854 |