A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1362n100



Internal ID20152978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8296504..8639973hg38UCSC Ensembl
chr12:8449100..8792569hg19UCSC Ensembl
chr12:8340367..8683836hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38343470
hg19343470
hg18343470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044543, nsv1039504
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A, LINC00937
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1362n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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