esv3428685
- 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:133,411
- 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: 687 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1150 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 756 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 774 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3428685 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 2,247,556 (-110, +1990) | 2,375,564 (-1580, +120) |
| esv3428685 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,925 (-110, +1990) | 564,335 (-1580, +120) |
| esv3428685 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 230,326 (-110, +1990) | 326,845 (-1580, +120) |
| esv3428685 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,183,122 (-110, +1990) | 2,316,667 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809505 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809505 | Remapped | Good | NT_187576.1:g.(430 815_432915)_(56275 5_564455)inv133367 | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,925 (-110, +1990) | 564,335 (-1580, +120) |
| essv8809505 | Remapped | Good | NC_000008.11:g.(22 47446_2249546)_(23 73984_2375684)inv1 33367 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 2,247,556 (-110, +1990) | 2,375,564 (-1580, +120) |
| essv8809505 | Remapped | Pass | NW_003571042.1:g.( 230216_232316)_(32 5265_326965)inv133 367 | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 230,326 (-110, +1990) | 326,845 (-1580, +120) |
| essv8809505 | Submitted genomic | NC_000008.9:g.(218 3012_2185112)_(231 5087_2316787)inv13 3367 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,183,122 (-110, +1990) | 2,316,667 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809505 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |