A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20415



Internal ID11037649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105953481..106017000hg38UCSC Ensembl
Innerchr14:106419546..106485109hg19UCSC Ensembl
Innerchr14:105490591..105556154hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3863520
hg1965564
hg1865564
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv36102, essv47936, essv74134, essv40232, essv34156, essv63519
SamplesNA18502, NA18861, NA12156, NA12878, NA18907, NA15510
Known GenesADAM6
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)esv20415
Frequency
Sample Size40
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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