A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22861



Internal ID11040094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69123210..69128454hg38UCSC Ensembl
Innerchr9:71738126..71743370hg19UCSC Ensembl
Innerchr9:70927946..70933190hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385245
hg195245
hg185245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12285
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA19108, NA12044, NA19147, NA12414, NA18508, NA12004, NA12006, NA07045, NA18858, NA18909, NA19099, NA19225, NA19240
Known GenesTJP2
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)esv22861
Frequency
Sample Size40
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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