A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1593n100



Internal ID20153209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133062687..133201059hg38UCSC Ensembl
chr12:133639273..133777645hg19UCSC Ensembl
chr12:132149346..132287718hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38138373
hg19138373
hg18138373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049845, nsv1035659, nsv1047671
Samples
Known GenesZNF10, ZNF140, ZNF268, ZNF84, ZNF891
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1593n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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