A curated catalogue of human genomic structural variation




Variant Details

Variant: essv73006



Internal ID11023533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140836128..140842469hg38UCSC Ensembl
Innerchr5:140215713..140222054hg19UCSC Ensembl
Innerchr5:140195897..140202238hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386342
hg196342
hg186342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14400
Supporting Variants
SamplesNA19225
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
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)essv73006
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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