A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26715



Internal ID11043948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:26710186..26712925hg38UCSC Ensembl
Innerchr10:26999115..27001854hg19UCSC Ensembl
Innerchr10:27039121..27041860hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg382740
hg192740
hg182740
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16803
SamplesNA18508, NA12414, NA11931, NA12004, NA19190, NA12828, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA06985, NA18858, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA12006, NA18511, NA12776
Known GenesPDSS1
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)esv26715
Frequency
Sample Size40
Observed Gain11
Observed Loss12
Observed Complex0
Frequencyn/a


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