esv3310481
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,724
- 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: 156 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 17 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310481 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,440,081 | 63,441,465 | 63,440,081 | 63,441,465 |
| esv3310481 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187625.1 | Chr20|NT_1 87625.1 | 25,364 | 25,364 | 28,087 | 28,087 |
| esv3310481 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 62,071,434 | 62,072,818 | 62,071,434 | 62,072,818 |
| esv3310481 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 61,541,878 | 61,543,262 | 61,541,878 | 61,543,262 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843517 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843517 | Remapped | Pass | NT_187625.1:g.(253 64_25364)_(28087_2 8087)ins1320 | GRCh38.p12 | Second Pass | NT_187625.1 | Chr20|NT_1 87625.1 | 25,364 | 25,364 | 28,087 | 28,087 |
| essv7843517 | Remapped | Perfect | NC_000020.11:g.(63 440081_63441465)_( 63440081_63441465) ins1320 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,440,081 | 63,441,465 | 63,440,081 | 63,441,465 |
| essv7843517 | Remapped | Perfect | NC_000020.10:g.(62 071434_62072818)_( 62071434_62072818) ins1320 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 62,071,434 | 62,072,818 | 62,071,434 | 62,072,818 |
| essv7843517 | Submitted genomic | NC_000020.9:g.(615 41878_61543262)_(6 1541878_61543262)i ns1320 | NCBI36 (hg18) | NC_000020.9 | Chr20 | 61,541,878 | 61,543,262 | 61,541,878 | 61,543,262 |