esv3310546
- 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:715
- 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: 138 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 231,201,949 | 231,202,663 | 231,201,949 | 231,202,663 |
| esv3310546 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 231,337,695 | 231,338,409 | 231,337,695 | 231,338,409 |
| esv3310546 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 229,404,318 | 229,405,032 | 229,404,318 | 229,405,032 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843522 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843522 | Remapped | Perfect | NC_000001.11:g.(23 1201949_231202663) _(231201949_231202 663)ins552 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,201,949 | 231,202,663 | 231,201,949 | 231,202,663 |
| essv7843522 | Remapped | Perfect | NC_000001.10:g.(23 1337695_231338409) _(231337695_231338 409)ins552 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 231,337,695 | 231,338,409 | 231,337,695 | 231,338,409 |
| essv7843522 | Submitted genomic | NC_000001.9:g.(229 404318_229405032)_ (229404318_2294050 32)ins552 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 229,404,318 | 229,405,032 | 229,404,318 | 229,405,032 |