A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20732



Internal ID11037966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82764707..82765482hg38UCSC Ensembl
Innerchr17:80722583..80723358hg19UCSC Ensembl
Innerchr17:78315872..78316647hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21913
Supporting Variantsessv69299, essv47720, essv42073, essv50612, essv56192, essv38533, essv33179
SamplesNA18861, NA12044, NA19257, NA19147, NA18517, NA18505, NA12776
Known GenesTBCD
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)esv20732
Frequency
Sample Size40
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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