A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24546



Internal ID11041779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29119982..29120632hg38UCSC Ensembl
Innerchr22:29515970..29516620hg19UCSC Ensembl
Innerchr22:27845970..27846620hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38651
hg19651
hg18651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15705
SamplesNA07037, NA11931, NA11894, NA19190, NA07045, NA18858, NA19240
Known GenesKREMEN1
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)esv24546
Frequency
Sample Size40
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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