A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29763



Internal ID11046996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77210045..77211531hg38UCSC Ensembl
Innerchr5:76505870..76507356hg19UCSC Ensembl
Innerchr5:76541626..76543112hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381487
hg191487
hg181487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14281
SamplesNA18511, NA12414
Known GenesPDE8B
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)esv29763
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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