esv3310410
- 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: 106 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310410 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 178,307,600 (-31, +31) | 178,307,600 (-31, +31) |
| esv3310410 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 179,172,327 (-31, +31) | 179,172,327 (-31, +31) |
| esv3310410 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 178,880,573 (-31, +31) | 178,880,573 (-31, +31) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7837596 | mobile element insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv7838928 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7837596 | Remapped | Perfect | NC_000002.12:g.(17 8307569_178307631) _(178307569_178307 631)ins1238 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 178,307,600 (-31, +31) | 178,307,600 (-31, +31) |
| essv7838928 | Remapped | Perfect | NC_000002.12:g.(17 8307569_178307631) _(178307569_178307 631)ins1238 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 178,307,600 (-31, +31) | 178,307,600 (-31, +31) |
| essv7837596 | Remapped | Perfect | NC_000002.11:g.(17 9172296_179172358) _(179172296_179172 358)ins1238 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 179,172,327 (-31, +31) | 179,172,327 (-31, +31) |
| essv7838928 | Remapped | Perfect | NC_000002.11:g.(17 9172296_179172358) _(179172296_179172 358)ins1238 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 179,172,327 (-31, +31) | 179,172,327 (-31, +31) |
| essv7837596 | Submitted genomic | NC_000002.10:g.(17 8880542_178880604) _(178880542_178880 604)ins1238 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 178,880,573 (-31, +31) | 178,880,573 (-31, +31) | ||
| essv7838928 | Submitted genomic | NC_000002.10:g.(17 8880542_178880604) _(178880542_178880 604)ins1238 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 178,880,573 (-31, +31) | 178,880,573 (-31, +31) |