A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16008



Internal ID11033242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180617221..180618651hg38UCSC Ensembl
Innerchr5:180044221..180045651hg19UCSC Ensembl
Innerchr5:179976827..179978257hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381431
hg191431
hg181431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27625
Supporting Variantsessv71690, essv35470
SamplesNA18907, NA19225
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)esv16008
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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