A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17050



Internal ID11034284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9874746..9875512hg38UCSC Ensembl
Innerchr4:9876370..9877136hg19UCSC Ensembl
Innerchr4:9485468..9486234hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38767
hg19767
hg18767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25020
Supporting Variantsessv65761, essv42786, essv66934, essv52391, essv75302, essv41931, essv49109, essv56919, essv59709, essv47887, essv37414, essv50058, essv32752, essv39183, essv73063, essv59302, essv44689
SamplesNA18861, NA12004, NA12287, NA12828, NA11993, NA12489, NA11894, NA19225, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA12006
Known GenesSLC2A9
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)esv17050
Frequency
Sample Size40
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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