A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv31n50



Internal ID20133389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46748907..46811189hg38UCSC Ensembl
chr3:46790397..46852679hg19UCSC Ensembl
chr3:46765401..46827683hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3862283
hg1962283
hg1862283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv513045, nsv511232
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)dgv31n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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