esv3682488
- 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:206
- 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: 141 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3682488 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 66,039,746 | 66,039,951 |
| esv3682488 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315944.2 | Chr15|NW_0 03315944.2 | 131,564 | 131,769 |
| esv3682488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 66,332,084 | 66,332,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv16503442 | deletion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16503442 | Remapped | Perfect | NW_003315944.2:g.1 31564_131769del204 | GRCh38.p12 | Second Pass | NW_003315944.2 | Chr15|NW_0 03315944.2 | 131,564 | 131,769 |
| essv16503442 | Remapped | Perfect | NC_000015.10:g.660 39746_66039951del2 04 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 66,039,746 | 66,039,951 |
| essv16503442 | Submitted genomic | NC_000015.9:g.6633 2084_66332289del20 4 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 66,332,084 | 66,332,289 |