A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv25n68



Internal ID11616751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102000993..102195522hg38UCSC Ensembl
chr14:102467330..102661859hg19UCSC Ensembl
chr14:101537083..101731612hg18UCSC Ensembl
chr14:101537083..101731612hg17UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38194530
hg19194530
hg18194530
hg17194530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832877, nsv832878
Samples
Known GenesDYNC1H1, HSP90AA1, WDR20
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)dgv25n68
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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