A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13259



Internal ID11030493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50076613..50241189hg38UCSC Ensembl
Innerchr10:47892511..48055660hg19UCSC Ensembl
Innerchr10:47412517..47575666hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38164577
hg19163150
hg18163150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24278
Supporting Variantsessv62707
SamplesNA15510
Known GenesFAM21B
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)esv13259
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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