A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22403



Internal ID11039636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14431323..14599322hg38UCSC Ensembl
Innerchr18:14431322..14599321hg19UCSC Ensembl
Innerchr18:14421322..14589321hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38168000
hg19168000
hg18168000
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16841, esv13975, esv19881
SamplesNA18861, NA11931, NA12044, NA18907, NA15510, NA18858, NA19240, NA07037
Known GenesCXADRP3, POTEC
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)esv22403
Frequency
Sample Size40
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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