esv3353470
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:130
- 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: 100 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 100 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3353470 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 141,947,175 (-110, +110) | 141,947,304 (-110, +110) |
| esv3353470 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 141,646,975 (-110, +110) | 141,647,104 (-110, +110) |
| esv3353470 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 89,126 (-110, +110) | 89,255 (-110, +110) |
| esv3353470 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 141,293,444 (-110, +110) | 141,293,573 (-110, +110) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8937853 | insertion | SAMN00001674 | Sequencing | Paired-end mapping | 10,842 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8937853 | Remapped | Perfect | NC_000007.14:g.(14 1947065_141947285) _(141947194_141947 414)ins228 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 141,947,175 (-110, +110) | 141,947,304 (-110, +110) |
| essv8937853 | Remapped | Perfect | NW_003571040.1:g.( 89016_89236)_(8914 5_89365)ins228 | GRCh37.p13 | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 89,126 (-110, +110) | 89,255 (-110, +110) |
| essv8937853 | Remapped | Perfect | NC_000007.13:g.(14 1646865_141647085) _(141646994_141647 214)ins228 | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 141,646,975 (-110, +110) | 141,647,104 (-110, +110) |
| essv8937853 | Submitted genomic | NC_000007.12:g.(14 1293334_141293554) _(141293463_141293 683)ins228 | NCBI36 (hg18) | NC_000007.12 | Chr7 | 141,293,444 (-110, +110) | 141,293,573 (-110, +110) |