A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv47n68



Internal ID19006568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2977776..3162121hg38UCSC Ensembl
chr19:2977774..3162119hg19UCSC Ensembl
chr19:2928774..3113119hg18UCSC Ensembl
chr19:2928774..3113119hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38184346
hg19184346
hg18184346
hg17184346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv833711, nsv833710
Samples
Known GenesAES, GNA11, GNA15, MIR548AZ, TLE2, TLE6
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)dgv47n68
Frequency
Sample Size95
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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