A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23281



Internal ID11040514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80650034..80652436hg38UCSC Ensembl
Innerchr5:79945853..79948255hg19UCSC Ensembl
Innerchr5:79981609..79984011hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382403
hg192403
hg182403
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12895
SamplesNA18916, NA19190
Known GenesDHFR, MTRNR2L2
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)esv23281
Frequency
Sample Size40
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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