A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2826n100



Internal ID20154442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23335983..23544166hg38UCSC Ensembl
chr16:23347304..23555487hg19UCSC Ensembl
chr16:23254805..23462988hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38208184
hg19208184
hg18208184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059666, nsv1063420, nsv1064712, nsv1061861
Samples
Known GenesCOG7, EARS2, GGA2, SCNN1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2826n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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