A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n29



Internal ID22767689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131260094..131428079hg38UCSC Ensembl
chr12:131744639..131912624hg19UCSC Ensembl
chr12:130310592..130478577hg18UCSC Ensembl
chr12:130097738..130265723hg16UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38167986
hg19167986
hg18167986
hg16167986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469651, nsv469686
Samples
Known GenesLOC338797
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)dgv1n29
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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