esv2863346
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:127
- Publication(s):Pang et al. 2014
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: 220 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2863346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,393,561 | 12,393,687 |
| esv2863346 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 362,564 | 362,690 |
| esv2863346 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,546,495 | 12,546,621 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7132913 | insertion | HuRef | Sequencing | Paired-end mapping | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7132913 | Remapped | Perfect | NW_011332696.1:g.( 362564_?)_(?_36269 0)ins102 | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 362,564 | 362,690 |
| essv7132913 | Remapped | Perfect | NC_000012.12:g.(12 393561_?)_(?_12393 687)ins102 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,393,561 | 12,393,687 |
| essv7132913 | Submitted genomic | NC_000012.11:g.(12 546495_?)_(?_12546 621)ins102 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,546,495 | 12,546,621 |