A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11064



Internal ID11374983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64287004..64293412hg38UCSC Ensembl
Innerchr20:62918357..62924765hg19UCSC Ensembl
Innerchr20:62388801..62395209hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg386409
hg196409
hg186409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24036
Supporting Variantsessv74547
SamplesNA12004
Known GenesLINC00266-1
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)esv11064
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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