A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13272



Internal ID11030506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57525081..57527264hg38UCSC Ensembl
Innerchr20:56100137..56102320hg19UCSC Ensembl
Innerchr20:55533543..55535726hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382184
hg192184
hg182184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25156
Supporting Variantsessv69870, essv78285, essv73663
SamplesNA12044, NA06985, NA12156
Known GenesCTCFL
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)esv13272
Frequency
Sample Size40
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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