A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18263



Internal ID11035497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76033844..76034488hg38UCSC Ensembl
Innerchr4:76954997..76955641hg19UCSC Ensembl
Innerchr4:77174021..77174665hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38645
hg19645
hg18645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27112
Supporting Variantsessv75097, essv47419
SamplesNA18861, NA12004
Known GenesART3, CXCL11
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)esv18263
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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