A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19608



Internal ID11383527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94600801..94601660hg38UCSC Ensembl
Innerchr13:95253055..95253914hg19UCSC Ensembl
Innerchr13:94051056..94051915hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38860
hg19860
hg18860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22360
Supporting Variantsessv43780, essv38806
SamplesNA19257, NA18909
Known Genes
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)esv19608
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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