A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50n50



Internal ID22767879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17376395..17381492hg38UCSC Ensembl
chr6:17376626..17381723hg19UCSC Ensembl
chr6:17484605..17489702hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385098
hg195098
hg185098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv511323, nsv511852
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)dgv50n50
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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