A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3053n100



Internal ID20154669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83159725..83178793hg38UCSC Ensembl
chr16:83193330..83212398hg19UCSC Ensembl
chr16:81750831..81769899hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3819069
hg1919069
hg1819069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060089, nsv1055862, nsv1065951, nsv1055679, nsv1063563, nsv1063889
Samples
Known GenesCDH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3053n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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