esv3384358
- 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:36,620
- 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: 2091 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1701 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1069 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3384358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,489,592 (-110, +1990) | 46,526,211 (-1580, +120) |
| esv3384358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 47,023,375 (-110, +1990) | 47,059,994 (-1580, +120) |
| esv3384358 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 46,443,381 (-110, +1990) | 46,480,000 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8808523 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8808523 | Remapped | Perfect | NC_000010.11:g.(46 489482_46491582)_( 46524631_46526331) inv36249 | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,489,592 (-110, +1990) | 46,526,211 (-1580, +120) |
| essv8808523 | Remapped | Perfect | NC_000010.10:g.(47 023265_47025365)_( 47058414_47060114) inv36249 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 47,023,375 (-110, +1990) | 47,059,994 (-1580, +120) |
| essv8808523 | Submitted genomic | NC_000010.9:g.(464 43271_46445371)_(4 6478420_46480120)i nv36249 | NCBI36 (hg18) | NC_000010.9 | Chr10 | 46,443,381 (-110, +1990) | 46,480,000 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8808523 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Pass |