A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21n68



Internal ID22782261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39205560..39414475hg38UCSC Ensembl
chr12:39599362..39808277hg19UCSC Ensembl
chr12:37885629..38094544hg18UCSC Ensembl
chr12:37885629..38094544hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38208916
hg19208916
hg18208916
hg17208916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832375, nsv832376
Samples
Known GenesKIF21A
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)dgv21n68
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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