A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23209



Internal ID11040442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80626165..80629207hg38UCSC Ensembl
Innerchr5:79921984..79925026hg19UCSC Ensembl
Innerchr5:79957740..79960782hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383043
hg193043
hg183043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18283
SamplesNA18861, NA18517, NA19108, NA19147, NA19190, NA18502, NA18858, NA19099
Known GenesDHFR
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)esv23209
Frequency
Sample Size40
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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