A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1465n100



Internal ID22787552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:37463949..37660349hg38UCSC Ensembl
chr12:37857751..38054151hg19UCSC Ensembl
chr12:36144018..36340418hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38196401
hg19196401
hg18196401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046126, nsv1053368, nsv1038702
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1465n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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