esv3357978
- 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:12,041
- 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: 347 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3357978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 62,806,336 (-110, +1990) | 62,818,376 (-1580, +120) |
esv3357978 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 66,462,160 (-110, +1990) | 66,474,200 (-1580, +120) |
esv3357978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 66,201,980 (-110, +1990) | 66,214,020 (-1580, +120) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8809578 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv8809578 | Remapped | Perfect | NC_000009.12:g.(62 806226_62808326)_( 62816796_62818496) inv13250 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 62,806,336 (-110, +1990) | 62,818,376 (-1580, +120) |
essv8809578 | Remapped | Perfect | NC_000009.11:g.(66 462050_66464150)_( 66472620_66474320) inv13250 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 66,462,160 (-110, +1990) | 66,474,200 (-1580, +120) |
essv8809578 | Submitted genomic | NC_000009.10:g.(66 201870_66203970)_( 66212440_66214140) inv13250 | NCBI36 (hg18) | NC_000009.10 | Chr9 | 66,201,980 (-110, +1990) | 66,214,020 (-1580, +120) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv8809578 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |