A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12450



Internal ID11029684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:551333..552868hg38UCSC Ensembl
Innerchr7:590970..592505hg19UCSC Ensembl
Innerchr7:557496..559031hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381536
hg191536
hg181536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25048
Supporting Variantsessv60269, essv75186, essv71479, essv47927, essv58350, essv82044, essv62326
SamplesNA18861, NA12004, NA18916, NA19114, NA15510, NA18523, NA19108
Known GenesPRKAR1B
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)esv12450
Frequency
Sample Size40
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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