A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25425



Internal ID11042658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68829898..68832906hg38UCSC Ensembl
Innerchr16:68863801..68866809hg19UCSC Ensembl
Innerchr16:67421302..67424310hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383009
hg193009
hg183009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16661
SamplesNA18861, NA19099
Known GenesCDH1
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)esv25425
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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