A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2986n100



Internal ID22789073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55750518..55795666hg38UCSC Ensembl
chr16:55784430..55829578hg19UCSC Ensembl
chr16:54341931..54387079hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3845149
hg1945149
hg1845149
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066137, nsv1056090, nsv1066661, nsv1057125, nsv1056957
Samples
Known GenesCES1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2986n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss27
Observed Complex0
Frequencyn/a


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