A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11532



Internal ID11375451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75559726..75560214hg38UCSC Ensembl
Innerchr18:73271681..73272169hg19UCSC Ensembl
Innerchr18:71400669..71401157hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38489
hg19489
hg18489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24350
Supporting Variantsessv35230
SamplesNA18907
Known Genes
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)esv11532
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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