A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n68



Internal ID19006535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58932624..59111366hg38UCSC Ensembl
chr11:58700097..58878839hg19UCSC Ensembl
chr11:58456673..58635415hg18UCSC Ensembl
chr11:58456673..58635415hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38178743
hg19178743
hg18178743
hg17178743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832171, nsv832169
Samples
Known GenesFAM111B, GLYATL1, LOC283194
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)dgv14n68
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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