A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv58n50



Internal ID22767887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179471..65182872hg38UCSC Ensembl
chr8:66091706..66095107hg19UCSC Ensembl
chr8:66254260..66257661hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383402
hg193402
hg183402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv512050, nsv511388
Samples1
Known GenesLINC00251
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)dgv58n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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