A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13757



Internal ID11030991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2919399..2921091hg38UCSC Ensembl
Innerchr3:2961083..2962775hg19UCSC Ensembl
Innerchr3:2936083..2937775hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381693
hg191693
hg181693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29042
Supporting Variantsessv77542, essv40069, essv55153, essv49481, essv45403, essv80994
SamplesNA11995, NA12878, NA19099, NA06985, NA18517, NA19129
Known GenesCNTN4
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)esv13757
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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