A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29688



Internal ID11046921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29405575..29413286hg38UCSC Ensembl
Innerchr12:29558508..29566219hg19UCSC Ensembl
Innerchr12:29449775..29457486hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387712
hg197712
hg187712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12612
SamplesNA19114, NA18511, NA18505, NA19129, NA12749, NA11993
Known GenesOVCH1-AS1
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)esv29688
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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