esv8272
- 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:12,317
- 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: 238 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv8272 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,142,391 | 47,142,432 | 47,154,663 | 47,154,707 |
| esv8272 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,219,757 | 45,219,798 | 45,232,029 | 45,232,073 |
| esv8272 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,574,756 | 42,574,797 | 42,587,028 | 42,587,072 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30713 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30713 | Remapped | Perfect | NC_000017.11:g.(47 142391_47142432)_( 47154663_47154707) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,142,391 | 47,142,432 | 47,154,663 | 47,154,707 |
| essv30713 | Remapped | Perfect | NC_000017.10:g.(45 219757_45219798)_( 45232029_45232073) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,219,757 | 45,219,798 | 45,232,029 | 45,232,073 |
| essv30713 | Submitted genomic | NC_000017.9:g.(425 74756_42574797)_(4 2587028_42587072)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,574,756 | 42,574,797 | 42,587,028 | 42,587,072 |