A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28069



Internal ID11045302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16293453..16402829hg38UCSC Ensembl
Innerchr16:16387310..16496686hg19UCSC Ensembl
Innerchr16:16294811..16404187hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38109377
hg19109377
hg18109377
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18099, esv16364, esv16365, esv18646
SamplesNA19114, NA12776, NA18505, NA12004, NA19190, NA12239, NA18907, NA19099, NA19240
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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)esv28069
Frequency
Sample Size40
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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