A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23868



Internal ID11041101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144531056..144532191hg38UCSC Ensembl
Innerchr8:145756440..145757575hg19UCSC Ensembl
Innerchr8:145727248..145728383hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11608
SamplesNA12489, NA18523, NA18517, NA19108, NA06985, NA18858, NA18907, NA12156, NA19099
Known GenesARHGAP39
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)esv23868
Frequency
Sample Size40
Observed Gain3
Observed Loss6
Observed Complex0
Frequencyn/a


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