esv3310391
- 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: 75 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 19 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 102,916,895 (-29, +29) | 102,916,895 (-29, +29) |
| esv3310391 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 103,310,673 (-29, +29) | 103,310,673 (-29, +29) |
| esv3310391 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 101,834,803 (-29, +29) | 101,834,803 (-29, +29) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7837632 | mobile element insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv7838938 | mobile element insertion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7837632 | Remapped | Perfect | NC_000012.12:g.(10 2916866_102916924) _(102916866_102916 924)ins153 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 102,916,895 (-29, +29) | 102,916,895 (-29, +29) |
| essv7838938 | Remapped | Perfect | NC_000012.12:g.(10 2916866_102916924) _(102916866_102916 924)ins153 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 102,916,895 (-29, +29) | 102,916,895 (-29, +29) |
| essv7837632 | Remapped | Perfect | NC_000012.11:g.(10 3310644_103310702) _(103310644_103310 702)ins153 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 103,310,673 (-29, +29) | 103,310,673 (-29, +29) |
| essv7838938 | Remapped | Perfect | NC_000012.11:g.(10 3310644_103310702) _(103310644_103310 702)ins153 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 103,310,673 (-29, +29) | 103,310,673 (-29, +29) |
| essv7837632 | Submitted genomic | NC_000012.10:g.(10 1834774_101834832) _(101834774_101834 832)ins153 | NCBI36 (hg18) | NC_000012.10 | Chr12 | 101,834,803 (-29, +29) | 101,834,803 (-29, +29) | ||
| essv7838938 | Submitted genomic | NC_000012.10:g.(10 1834774_101834832) _(101834774_101834 832)ins153 | NCBI36 (hg18) | NC_000012.10 | Chr12 | 101,834,803 (-29, +29) | 101,834,803 (-29, +29) |