A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv15n68



Internal ID20147784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64020230..64196060hg38UCSC Ensembl
chr11:63787702..63963532hg19UCSC Ensembl
chr11:63544278..63720108hg18UCSC Ensembl
chr11:63544278..63720108hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38175831
hg19175831
hg18175831
hg17175831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv832185, nsv832184
Samples
Known GenesFLRT1, MACROD1, STIP1
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)dgv15n68
Frequency
Sample Size95
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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