A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1768n100



Internal ID22787855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19230949..19959442hg38UCSC Ensembl
chr14:19790343..20427601hg19UCSC Ensembl
chr14:18860343..19497441hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38728494
hg19637259
hg18637099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041585, nsv1036497, nsv1035606, nsv1041848, nsv1036820, nsv1045897, nsv1037913, nsv1035214, nsv1037731, nsv1039191, nsv1038628, nsv1037912, nsv1042206, nsv1054290, nsv1054526, nsv1044452, nsv1054233, nsv1043258, nsv1040157, nsv1053097, nsv1039853, nsv1052024, nsv1049395, nsv1040495, nsv1046958, nsv1053246, nsv1037063, nsv1047546, nsv1042420, nsv1039750, nsv1039531, nsv1048839, nsv1037794, nsv1037754, nsv1038051, nsv1045236, nsv1040798, nsv1036888, nsv1038760, nsv1040570, nsv1054553, nsv1035945, nsv1036524, nsv1039409, nsv1042893, nsv1046551, nsv1051042, nsv1046957, nsv1050086, nsv1049954, nsv1054769, nsv1050812, nsv1039767, nsv1046697, nsv1044244, nsv1044819, nsv1035794, nsv1044721, nsv1039252
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1768n100
Frequency
Sample Size11257
Observed Gain261
Observed Loss0
Observed Complex0
Frequencyn/a


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