A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14844



Internal ID11378763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46839112..46892985hg38UCSC Ensembl
Innerchr8:47750734..47804607hg19UCSC Ensembl
Innerchr8:47869899..47923772hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3853874
hg1953874
hg1853874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26239
Supporting Variantsessv55992
SamplesNA12776
Known GenesLINC00293
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv14844
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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