A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1059n100



Internal ID20152675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12197656..12685051hg38UCSC Ensembl
chr11:12219203..12706598hg19UCSC Ensembl
chr11:12175779..12663174hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38487396
hg19487396
hg18487396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036679, nsv1044007
Samples
Known GenesMICAL2, MICALCL, PARVA, TEAD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1059n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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