esv3310401
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 127 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 39 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310401 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 53,648,896 (-22, +22) | 53,648,896 (-22, +22) |
| esv3310401 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 53,941,093 (-22, +22) | 53,941,093 (-22, +22) |
| esv3310401 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 51,728,385 (-22, +22) | 51,728,385 (-22, +22) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7841641 | mobile element insertion | SAMN00001696 | Sequencing | Split read and paired-end mapping | 44,056 |
| essv7843136 | mobile element insertion | SAMN00001695 | Sequencing | Split read and paired-end mapping | 37,049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7841641 | Remapped | Perfect | NC_000015.10:g.(53 648874_53648918)_( 53648874_53648918) ins134 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 53,648,896 (-22, +22) | 53,648,896 (-22, +22) |
| essv7843136 | Remapped | Perfect | NC_000015.10:g.(53 648874_53648918)_( 53648874_53648918) ins134 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 53,648,896 (-22, +22) | 53,648,896 (-22, +22) |
| essv7841641 | Remapped | Perfect | NC_000015.9:g.(539 41071_53941115)_(5 3941071_53941115)i ns134 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 53,941,093 (-22, +22) | 53,941,093 (-22, +22) |
| essv7843136 | Remapped | Perfect | NC_000015.9:g.(539 41071_53941115)_(5 3941071_53941115)i ns134 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 53,941,093 (-22, +22) | 53,941,093 (-22, +22) |
| essv7841641 | Submitted genomic | NC_000015.8:g.(517 28363_51728407)_(5 1728363_51728407)i ns134 | NCBI36 (hg18) | NC_000015.8 | Chr15 | 51,728,385 (-22, +22) | 51,728,385 (-22, +22) | ||
| essv7843136 | Submitted genomic | NC_000015.8:g.(517 28363_51728407)_(5 1728363_51728407)i ns134 | NCBI36 (hg18) | NC_000015.8 | Chr15 | 51,728,385 (-22, +22) | 51,728,385 (-22, +22) |