A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16733



Internal ID11033967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70948102..70963000hg38UCSC Ensembl
Innerchr5:70243929..70258827hg19UCSC Ensembl
Innerchr5:70279685..70294583hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3814899
hg1914899
hg1814899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv75476, essv36074, essv73525, essv71134, essv51225, essv47358
SamplesNA18861, NA12414, NA11931, NA18916, NA12156, NA18907
Known GenesSMN1, SMN2
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)esv16733
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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