A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1010n100



Internal ID22787097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:198510..252851hg38UCSC Ensembl
chr11:198510..252851hg19UCSC Ensembl
chr11:188510..242851hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3854342
hg1954342
hg1854342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049713, nsv1044829, nsv1051689, nsv1054322, nsv1047524
Samples
Known GenesBET1L, MIR6743, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1010n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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