A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12879



Internal ID11030113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134922446..134929025hg38UCSC Ensembl
Innerchr5:134258136..134264715hg19UCSC Ensembl
Innerchr5:134286035..134292614hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386580
hg196580
hg186580
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22702
Supporting Variantsessv84137, essv64502, essv70680, essv62059, essv67158, essv73683
SamplesNA19190, NA18916, NA12156, NA12828, NA07045, NA12239
Known GenesMIR4461, PCBD2
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)esv12879
Frequency
Sample Size40
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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