A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1352n100



Internal ID22787439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7805181..7978362hg38UCSC Ensembl
chr12:7957777..8130958hg19UCSC Ensembl
chr12:7849044..8022225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38173182
hg19173182
hg18173182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050074, nsv1044982, nsv1040944, nsv1038435, nsv1039479, nsv1047354, nsv1049787, nsv1043063, nsv1046644, nsv1041719, nsv1051972
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1352n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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