A curated catalogue of human genomic structural variation




Variant Details

Variant: esv18731



Internal ID11382650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28403121..28459965hg38UCSC Ensembl
Innerchr15:28648267..28705000hg19UCSC Ensembl
Innerchr15:26321862..26378706hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3856845
hg1956734
hg1856845
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22824
Supporting Variantsessv70539, essv67620, essv67453, essv39804, essv73744, essv41998
SamplesNA18916, NA12287, NA12156, NA12828, NA18858, NA18505
Known GenesMIR4509-1, MIR4509-2, MIR4509-3
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)esv18731
Frequency
Sample Size40
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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