esv3444020
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:10,056
- 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: 152 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3444020 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 47,306,914 (-110, +1990) | 47,316,969 (-1580, +120) |
| esv3444020 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 48,214,892 (-110, +1990) | 48,231,951 (-1580, +120) |
| esv3444020 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004775431.1 | Chr8|NW_00 4775431.1 | 43,072 (-110, +1990) | 53,127 (-1580, +120) |
| esv3444020 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 48,377,445 (-110, +1990) | 48,394,504 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809527 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809527 | Remapped | Pass | NC_000008.11:g.(47 306804_47308904)_( 47315389_47317089) inv16480 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 47,306,914 (-110, +1990) | 47,316,969 (-1580, +120) |
| essv8809527 | Remapped | Pass | NW_004775431.1:g.( 42962_45062)_(5154 7_53247)inv16480 | GRCh37.p13 | Second Pass | NW_004775431.1 | Chr8|NW_00 4775431.1 | 43,072 (-110, +1990) | 53,127 (-1580, +120) |
| essv8809527 | Remapped | Perfect | NC_000008.10:g.(48 214782_48216882)_( 48230371_48232071) inv16480 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 48,214,892 (-110, +1990) | 48,231,951 (-1580, +120) |
| essv8809527 | Submitted genomic | NC_000008.9:g.(483 77335_48379435)_(4 8392924_48394624)i nv16480 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 48,377,445 (-110, +1990) | 48,394,504 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809527 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |