esv3445648
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:36,831
- 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: 2054 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1670 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 949 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 1055 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3445648 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,489,981 (-110, +1990) | 46,526,811 (-1580, +120) |
| esv3445648 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 47,022,806 (-110, +1990) | 47,059,458 (-1580, +120) |
| esv3445648 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 761,396 (-110, +1990) | 797,070 (-1580, +120) |
| esv3445648 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,442,812 (-110, +1990) | 46,479,464 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8808522 | inversion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8808522 | Remapped | Good | NC_000010.11:g.(46 489871_46491971)_( 46525231_46526931) inv36010 | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,489,981 (-110, +1990) | 46,526,811 (-1580, +120) |
| essv8808522 | Remapped | Good | NW_003871068.1:g.( 761286_763386)_(79 5490_797190)inv360 10 | GRCh37.p13 | Second Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 761,396 (-110, +1990) | 797,070 (-1580, +120) |
| essv8808522 | Remapped | Perfect | NC_000010.10:g.(47 022696_47024796)_( 47057878_47059578) inv36010 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 47,022,806 (-110, +1990) | 47,059,458 (-1580, +120) |
| essv8808522 | Submitted genomic | NC_000010.9:g.(464 42702_46444802)_(4 6477884_46479584)i nv36010 | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,442,812 (-110, +1990) | 46,479,464 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8808522 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |