A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27181



Internal ID11044414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41277923..41278739hg38UCSC Ensembl
Innerchr20:39906563..39907379hg19UCSC Ensembl
Innerchr20:39339977..39340793hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38817
hg19817
hg18817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12282
SamplesNA12489, NA19129
Known GenesZHX3
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)esv27181
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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