A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3124n100



Internal ID22789211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21399695..21661649hg38UCSC Ensembl
chr17:21303007..21566341hg19UCSC Ensembl
chr17:21243600..21506934hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38261955
hg19263335
hg18263335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063902, nsv1060167, nsv1065282, nsv1059496, nsv1057365, nsv1067366, nsv1060820, nsv1062015, nsv1064086, nsv1056663, nsv1059024, nsv1066072, nsv1056000, nsv1061334, nsv1060194, nsv1066929, nsv1056966, nsv1059717, nsv1059220, nsv1065621, nsv1065875, nsv1064846, nsv1067112, nsv1059674, nsv1063317, nsv1063825, nsv1064543, nsv1064414, nsv1064710, nsv1066687, nsv1058333, nsv1063911, nsv1059980
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3124n100
Frequency
Sample Size11257
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer