A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21518



Internal ID11385437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21916735..22025586hg38UCSC Ensembl
Innerchr5:21916844..22025695hg19UCSC Ensembl
Innerchr5:21952601..22061452hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38108852
hg19108852
hg18108852
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18490, esv17974, esv13212, esv21391, esv11596
SamplesNA18502, NA11995, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776
Known GenesCDH12
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)esv21518
Frequency
Sample Size40
Observed Gain25
Observed Loss3
Observed Complex0
Frequencyn/a


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