A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17822



Internal ID11381741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:113782220..113783556hg38UCSC Ensembl
Innerchr10:115541979..115543315hg19UCSC Ensembl
Innerchr10:115531969..115533305hg18UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381337
hg191337
hg181337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28320
Supporting Variantsessv77395
SamplesNA18511
Known GenesPLEKHS1
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)esv17822
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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