A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22633



Internal ID11039866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747235..121748400hg38UCSC Ensembl
Innerchr12:122185141..122186306hg19UCSC Ensembl
Innerchr12:120669524..120670689hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381166
hg191166
hg181166
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13281, esv17417
SamplesNA19114, NA19257, NA19108, NA15510, NA18508, NA18916, NA19190, NA19129, NA06985, NA12156, NA19240
Known GenesTMEM120B
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)esv22633
Frequency
Sample Size40
Observed Gain3
Observed Loss8
Observed Complex0
Frequencyn/a


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