A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16096



Internal ID11033330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53960806..53963118hg38UCSC Ensembl
Innerchr19:54464060..54466372hg19UCSC Ensembl
Innerchr19:59155872..59158184hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382313
hg192313
hg182313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21442
Supporting Variantsessv66026, essv42676, essv80856, essv33529, essv73107, essv41390, essv54476
SamplesNA11995, NA19099, NA19225, NA18909, NA19147, NA19240, NA18505
Known GenesCACNG8
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)esv16096
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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