esv3397579
- 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:16,697
- 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 37 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3397579 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 233,561,164 (-110, +1990) | 233,577,860 (-1580, +120) |
| esv3397579 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 234,471,354 (-110, +1990) | 234,487,994 (-1580, +120) |
| esv3397579 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 234,134,549 (-110, +1990) | 234,151,245 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809100 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8809100 | Remapped | Perfect | NC_000002.12:g.(23 3561054_233563154) _(233576280_233577 980)inv15927 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 233,561,164 (-110, +1990) | 233,577,860 (-1580, +120) |
| essv8809100 | Remapped | Good | NC_000002.11:g.(23 4471244_234473344) _(234486414_234488 114)inv15927 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 234,471,354 (-110, +1990) | 234,487,994 (-1580, +120) |
| essv8809100 | Submitted genomic | NC_000002.10:g.(23 4134439_234136539) _(234149665_234151 365)inv15927 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 234,134,549 (-110, +1990) | 234,151,245 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809100 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |