A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n68



Internal ID20147781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55454951..55665190hg38UCSC Ensembl
chr11:55222427..55432666hg19UCSC Ensembl
chr11:54979003..55189242hg18UCSC Ensembl
chr11:54979003..55189242hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38210240
hg19210240
hg18210240
hg17210240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832154, nsv832155
Samples
Known GenesOR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv12n68
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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