esv3310461
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:592
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 100 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 69,100,677 | 69,101,268 | 69,100,677 | 69,101,268 |
| esv3310461 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 69,810,569 | 69,811,160 | 69,810,569 | 69,811,160 |
| esv3310461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 69,867,290 | 69,867,881 | 69,867,290 | 69,867,881 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843514 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843514 | Remapped | Perfect | NC_000006.12:g.(69 100677_69101268)_( 69100677_69101268) ins666 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 69,100,677 | 69,101,268 | 69,100,677 | 69,101,268 |
| essv7843514 | Remapped | Perfect | NC_000006.11:g.(69 810569_69811160)_( 69810569_69811160) ins666 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 69,810,569 | 69,811,160 | 69,810,569 | 69,811,160 |
| essv7843514 | Submitted genomic | NC_000006.10:g.(69 867290_69867881)_( 69867290_69867881) ins666 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 69,867,290 | 69,867,881 | 69,867,290 | 69,867,881 |