A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70n68



Internal ID20147839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37135410..37338352hg38UCSC Ensembl
chr21:38507710..38710654hg19UCSC Ensembl
chr21:37429580..37632524hg18UCSC Ensembl
chr21:37429580..37632524hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38202943
hg19202945
hg18202945
hg17202945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv834095, nsv834094
Samples
Known GenesDSCR3, DSCR9, TTC3
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)dgv70n68
Frequency
Sample Size95
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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