A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25460



Internal ID11042693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46169173..46172007hg38UCSC Ensembl
Innerchr21:47589087..47591921hg19UCSC Ensembl
Innerchr21:46413515..46416349hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382835
hg192835
hg182835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18171
SamplesNA19114, NA18511, NA11931, NA12828, NA12776, NA19257, NA19108, NA15510, NA18505, NA18916, NA19190, NA12006, NA07045, NA19129, NA18907, NA12749, NA12156
Known GenesSPATC1L
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)esv25460
Frequency
Sample Size40
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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