A curated catalogue of human genomic structural variation




Variant Details

Variant: essv75782



Internal ID11336786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:33529260..33604008hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg1874749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14772
Supporting Variants
SamplesNA12414
Known GenesTBC1D3, TBC1D3C, TBC1D3F
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)essv75782
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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