A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1595n100



Internal ID22787682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133097005..133183162hg38UCSC Ensembl
chr12:133673591..133759748hg19UCSC Ensembl
chr12:132183664..132269821hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3886158
hg1986158
hg1886158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047733, nsv1038364, nsv1046420
Samples
Known GenesZNF10, ZNF140, ZNF268, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1595n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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