A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14986



Internal ID11032220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180615160..180616160hg38UCSC Ensembl
Innerchr5:180042160..180043160hg19UCSC Ensembl
Innerchr5:179974766..179975766hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27625
Supporting Variantsessv62449, essv44789
SamplesNA12489, NA15510
Known GenesFLT4
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)esv14986
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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