A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1013n100



Internal ID20152629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:772982..933569hg38UCSC Ensembl
chr11:772982..933569hg19UCSC Ensembl
chr11:762982..923569hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38160588
hg19160588
hg18160588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036491, nsv1052334, nsv1051535, nsv1035635, nsv1051062
Samples
Known GenesAP2A2, CD151, CEND1, CHID1, EFCAB4A, NS3BP, PDDC1, PIDD, PNPLA2, POLR2L, RPLP2, SLC25A22, SNORA52, TSPAN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1013n100
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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