esv2864680
- 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:124
- 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: 157 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2864680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 2,379,839 | 2,379,962 |
| esv2864680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 2,360,485 | 2,360,608 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7134247 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7134247 | Remapped | Perfect | NC_000020.11:g.(23 79839_?)_(?_237996 2)ins195 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 2,379,839 | 2,379,962 |
| essv7134247 | Submitted genomic | NC_000020.10:g.(23 60485_?)_(?_236060 8)ins195 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 2,360,485 | 2,360,608 |