A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14965



Internal ID11378884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:818813..827242hg38UCSC Ensembl
Innerchr1:754193..762622hg19UCSC Ensembl
Innerchr1:744056..752485hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388430
hg198430
hg188430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27271
Supporting Variantsessv70296
SamplesNA18916
Known GenesFAM87B, LINC00115
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)esv14965
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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