A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2999n100



Internal ID20154615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69954471..70091259hg38UCSC Ensembl
chr16:69988374..70125162hg19UCSC Ensembl
chr16:68545875..68682663hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38136789
hg19136789
hg18136789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060404, nsv1057982
Samples
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2999n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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