A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv92n68



Internal ID20147861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69559928..69745898hg38UCSC Ensembl
chr8:70472163..70658133hg19UCSC Ensembl
chr8:70634717..70820687hg18UCSC Ensembl
chr8:70634717..70820687hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38185971
hg19185971
hg18185971
hg17185971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv831351, nsv831350
Samples
Known GenesSLCO5A1, SULF1
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)dgv92n68
Frequency
Sample Size95
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer