A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6909n100



Internal ID20158525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7312955..8008268hg38UCSC Ensembl
chr8:7170477..7865790hg19UCSC Ensembl
chr8:7157887..7903200hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38695314
hg19695314
hg18745314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034189, nsv1024535, nsv1022571, nsv1027011, nsv1031289, nsv1021548, nsv1030743, nsv1018607, nsv1026035, nsv1015574, nsv1026717, nsv1030083, nsv1019847, nsv1026464, nsv1032340, nsv1023538, nsv1015952, nsv1033600, nsv1023219, nsv1022861, nsv1020898, nsv1027478, nsv1019013, nsv1023289, nsv1019028, nsv1026196, nsv1016211, nsv1022640, nsv1019846, nsv1024082, nsv1024346, nsv1023762, nsv1021498, nsv1015651, nsv1024892, nsv1027632, nsv1026164, nsv1022270, nsv1015292, nsv1020591, nsv1020049, nsv1033041, nsv1022626, nsv1018710, nsv1015622, nsv1020504, nsv1018631, nsv1028166, nsv1022175, nsv1026661, nsv1031622, nsv1019175, nsv1034868, nsv1018666, nsv1024706, nsv1024825, nsv1023539, nsv1027343, nsv1034117, nsv1020353, nsv1016757, nsv1024869, nsv1028949, nsv1027470, nsv1023969, nsv1026613, nsv1020567, nsv1026567, nsv1034321, nsv1031009, nsv1022333, nsv1023925
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6909n100
Frequency
Sample Size29084
Observed Gain130
Observed Loss0
Observed Complex0
Frequencyn/a


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