A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv42n68



Internal ID19006563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50584511..50823099hg38UCSC Ensembl
chr17:48661872..48900460hg19UCSC Ensembl
chr17:46016871..46255459hg18UCSC Ensembl
chr17:46016871..46255459hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38238589
hg19238589
hg18238589
hg17238589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833479, nsv833478
Samples
Known GenesABCC3, ANKRD40, CACNA1G, LINC00483, LUC7L3, MIR8059
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)dgv42n68
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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