A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16736



Internal ID11380655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:210526..213616hg38UCSC Ensembl
Innerchr5:210641..213731hg19UCSC Ensembl
Innerchr5:263641..266731hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383091
hg193091
hg183091
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29543
Supporting Variantsessv32602, essv42299, essv38204, essv65287, essv73570, essv77915, essv56917, essv71733, essv70969
SamplesNA18916, NA12156, NA11993, NA19257, NA19225, NA06985, NA19147, NA19240, NA18505
Known GenesCCDC127
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)esv16736
Frequency
Sample Size40
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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