esv3325601
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:127
- 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: 140 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3325601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 91,174,027 (-94, +92) | 91,174,153 (-94, +92) |
| esv3325601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 92,186,255 (-94, +92) | 92,186,381 (-94, +92) |
| esv3325601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 92,255,431 (-94, +92) | 92,255,557 (-94, +92) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8677228 | insertion | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
| essv8677229 | insertion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
| essv8677230 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8677228 | Remapped | Perfect | NC_000008.11:g.(91 173933_91174119)_( 91174059_91174245) ins57 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 91,174,027 (-94, +92) | 91,174,153 (-94, +92) |
| essv8677229 | Remapped | Perfect | NC_000008.11:g.(91 173933_91174119)_( 91174059_91174245) ins57 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 91,174,027 (-94, +92) | 91,174,153 (-94, +92) |
| essv8677230 | Remapped | Perfect | NC_000008.11:g.(91 173933_91174119)_( 91174059_91174245) ins57 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 91,174,027 (-94, +92) | 91,174,153 (-94, +92) |
| essv8677228 | Remapped | Perfect | NC_000008.10:g.(92 186161_92186347)_( 92186287_92186473) ins57 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 92,186,255 (-94, +92) | 92,186,381 (-94, +92) |
| essv8677229 | Remapped | Perfect | NC_000008.10:g.(92 186161_92186347)_( 92186287_92186473) ins57 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 92,186,255 (-94, +92) | 92,186,381 (-94, +92) |
| essv8677230 | Remapped | Perfect | NC_000008.10:g.(92 186161_92186347)_( 92186287_92186473) ins57 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 92,186,255 (-94, +92) | 92,186,381 (-94, +92) |
| essv8677228 | Submitted genomic | NC_000008.9:g.(922 55337_92255523)_(9 2255463_92255649)i ns57 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 92,255,431 (-94, +92) | 92,255,557 (-94, +92) | ||
| essv8677229 | Submitted genomic | NC_000008.9:g.(922 55337_92255523)_(9 2255463_92255649)i ns57 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 92,255,431 (-94, +92) | 92,255,557 (-94, +92) | ||
| essv8677230 | Submitted genomic | NC_000008.9:g.(922 55337_92255523)_(9 2255463_92255649)i ns57 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 92,255,431 (-94, +92) | 92,255,557 (-94, +92) |