A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29394



Internal ID11046627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63737285..63740490hg38UCSC Ensembl
Innerchr20:62368638..62371843hg19UCSC Ensembl
Innerchr20:61839082..61842287hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383206
hg193206
hg183206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18165, esv12483
SamplesNA12004, NA12489
Known GenesLIME1, SLC2A4RG
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)esv29394
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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