A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1328n100



Internal ID22787415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..134425hg38UCSC Ensembl
chr12:150430..243591hg19UCSC Ensembl
chr12:20691..113852hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3889425
hg1993162
hg1893162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054172, nsv1035269, nsv1041727, nsv1053117, nsv1040136, nsv1045411, nsv1046438, nsv1044261
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)dgv1328n100
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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