esv3310385
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- 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: 77 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3310385 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 155,117,107 (-18, +18) | 155,117,107 (-18, +18) |
| esv3310385 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 155,438,241 (-18, +18) | 155,438,241 (-18, +18) |
| esv3310385 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 155,479,933 (-18, +18) | 155,479,933 (-18, +18) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7841870 | mobile element insertion | SAMN00001696 | Sequencing | Split read and paired-end mapping | 44,056 |
| essv7842391 | mobile element insertion | SAMN00001694 | Sequencing | Split read and paired-end mapping | 29,487 |
| essv7842884 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7841870 | Remapped | Perfect | NC_000006.12:g.(15 5117089_155117125) _(155117089_155117 125)ins42 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 155,117,107 (-18, +18) | 155,117,107 (-18, +18) |
| essv7842391 | Remapped | Perfect | NC_000006.12:g.(15 5117089_155117125) _(155117089_155117 125)ins42 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 155,117,107 (-18, +18) | 155,117,107 (-18, +18) |
| essv7842884 | Remapped | Perfect | NC_000006.12:g.(15 5117089_155117125) _(155117089_155117 125)ins42 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 155,117,107 (-18, +18) | 155,117,107 (-18, +18) |
| essv7841870 | Remapped | Perfect | NC_000006.11:g.(15 5438223_155438259) _(155438223_155438 259)ins42 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 155,438,241 (-18, +18) | 155,438,241 (-18, +18) |
| essv7842391 | Remapped | Perfect | NC_000006.11:g.(15 5438223_155438259) _(155438223_155438 259)ins42 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 155,438,241 (-18, +18) | 155,438,241 (-18, +18) |
| essv7842884 | Remapped | Perfect | NC_000006.11:g.(15 5438223_155438259) _(155438223_155438 259)ins42 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 155,438,241 (-18, +18) | 155,438,241 (-18, +18) |
| essv7841870 | Submitted genomic | NC_000006.10:g.(15 5479915_155479951) _(155479915_155479 951)ins42 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 155,479,933 (-18, +18) | 155,479,933 (-18, +18) | ||
| essv7842391 | Submitted genomic | NC_000006.10:g.(15 5479915_155479951) _(155479915_155479 951)ins42 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 155,479,933 (-18, +18) | 155,479,933 (-18, +18) | ||
| essv7842884 | Submitted genomic | NC_000006.10:g.(15 5479915_155479951) _(155479915_155479 951)ins42 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 155,479,933 (-18, +18) | 155,479,933 (-18, +18) |