A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13926



Internal ID11377845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67270993..67302843hg38UCSC Ensembl
Innerchr7:66735980..66767830hg19UCSC Ensembl
Innerchr7:66373415..66405265hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3831851
hg1931851
hg1831851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29559
Supporting Variantsessv45724, essv35438, essv78742, essv32601, essv71845, essv41300
SamplesNA18907, NA19225, NA19147, NA12749, NA18505, NA19129
Known GenesPMS2P4, STAG3L4
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)esv13926
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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