esv3310580
- 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:1,005
- 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: 231 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310580 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,698,560 | 48,698,560 | 48,699,564 | 48,699,564 |
| esv3310580 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 49,094,372 | 49,094,372 | 49,095,376 | 49,095,376 |
| esv3310580 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 47,480,884 | 47,481,382 | 47,480,884 | 47,481,382 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843519 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843519 | Remapped | Pass | NC_000022.11:g.(48 698560_48698560)_( 48699564_48699564) ins770 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,698,560 | 48,698,560 | 48,699,564 | 48,699,564 |
| essv7843519 | Remapped | Pass | NC_000022.10:g.(49 094372_49094372)_( 49095376_49095376) ins770 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 49,094,372 | 49,094,372 | 49,095,376 | 49,095,376 |
| essv7843519 | Submitted genomic | NC_000022.9:g.(474 80884_47481382)_(4 7480884_47481382)i ns770 | NCBI36 (hg18) | NC_000022.9 | Chr22 | 47,480,884 | 47,481,382 | 47,480,884 | 47,481,382 |