A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1417n100



Internal ID20153033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31065753..31261539hg38UCSC Ensembl
chr12:31218687..31414473hg19UCSC Ensembl
chr12:31109954..31305740hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38195787
hg19195787
hg18195787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053912, nsv1035674, nsv1052261, nsv1041491, nsv1041874, nsv1041252, nsv1053920, nsv1038799, nsv1052705, nsv1040626, nsv1037142, nsv1042736, nsv1049249, nsv1044047, nsv1037378, nsv1044570, nsv1049211, nsv1051356, nsv1038192, nsv1050560, nsv1037695, nsv1046387, nsv1050894, nsv1035628, nsv1051593, nsv1041000, nsv1053395
Samples
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1417n100
Frequency
Sample Size29084
Observed Gain112
Observed Loss0
Observed Complex0
Frequencyn/a


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