A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1467n100



Internal ID20153083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37463949..38363500hg38UCSC Ensembl
chr12:37857751..38757302hg19UCSC Ensembl
chr12:36144018..37043569hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38899552
hg19899552
hg18899552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043459, nsv1050718, nsv1035849
Samples
Known GenesALG10B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1467n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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