esv3813546
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:complex chromosomal rearrangement
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:401
- Description:Chr19:g.o(47976326_47976726)_chr19:o(48099662_
48100062)bkpt - Publication(s):Forbes et al. 2008, Forbes et al. 2008, Stephens et al. 2009
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: 60 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|---|---|
esv3813546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,473,069 | 47,473,469 | 47,473,069 | 47,473,469 | - |
esv3813546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 47,596,405 | 47,596,805 | 47,596,405 | 47,596,805 | - |
esv3813546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,976,326 | 47,976,726 | 47,976,326 | 47,976,726 | - | ||
esv3813546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 48,099,662 | 48,100,062 | 48,099,662 | 48,100,062 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16643231 | intrachromosomal translocation | 749709 | Curated | Curated | 261 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16643231 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,473,069 | 47,473,469 | 47,473,069 | 47,473,469 | - |
essv16643231 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 47,596,405 | 47,596,805 | 47,596,405 | 47,596,805 | - |
essv16643231 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,976,326 | 47,976,726 | 47,976,326 | 47,976,726 | - | ||
essv16643231 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 48,099,662 | 48,100,062 | 48,099,662 | 48,100,062 | - |