A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n50



Internal ID22767843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104974916..104981566hg38UCSC Ensembl
chr12:105368694..105375344hg19UCSC Ensembl
chr12:103892824..103899474hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386651
hg196651
hg186651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv512291, nsv511501
Samples1
Known Genes
MethodSequencing
SNP array
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
Analysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Not reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)dgv14n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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