esv3373855
- 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:14,855
- 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: 110 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 41 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3373855 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 123,979,146 (-110, +1990) | 123,994,000 (-1580, +120) |
| esv3373855 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 126,741,425 (-110, +1990) | 126,756,279 (-1580, +120) |
| esv3373855 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 125,781,246 (-110, +1990) | 125,796,100 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809558 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809558 | Remapped | Perfect | NC_000009.12:g.(12 3979036_123981136) _(123992420_123994 120)inv14667 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 123,979,146 (-110, +1990) | 123,994,000 (-1580, +120) |
| essv8809558 | Remapped | Perfect | NC_000009.11:g.(12 6741315_126743415) _(126754699_126756 399)inv14667 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 126,741,425 (-110, +1990) | 126,756,279 (-1580, +120) |
| essv8809558 | Submitted genomic | NC_000009.10:g.(12 5781136_125783236) _(125794520_125796 220)inv14667 | NCBI36 (hg18) | NC_000009.10 | Chr9 | 125,781,246 (-110, +1990) | 125,796,100 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809558 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |