A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1326n100



Internal ID22787413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..116533hg38UCSC Ensembl
chr12:150430..225699hg19UCSC Ensembl
chr12:20691..95960hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3871533
hg1975270
hg1875270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040701, nsv1040562, nsv1042269, nsv1035999
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1326n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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