A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1759n100



Internal ID22787846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18559262..19988275hg38UCSC Ensembl
chr14:19335739..20456434hg19UCSC Ensembl
chr14:18405739..19526274hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381429014
hg191120696
hg181120536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049532, nsv1044019, nsv1035311, nsv1038759, nsv1037552, nsv1049987, nsv1040734, nsv1054708, nsv1038948, nsv1052468, nsv1052972, nsv1045110, nsv1052794, nsv1047278, nsv1051429, nsv1054599, nsv1037252, nsv1054019, nsv1052826, nsv1055010, nsv1047327, nsv1035296, nsv1050389, nsv1053406, nsv1047362, nsv1047313, nsv1044073, nsv1049335, nsv1049212, nsv1039070, nsv1041743, nsv1049040, nsv1035979, nsv1041043, nsv1043078, nsv1049388, nsv1051315, nsv1039372, nsv1047279, nsv1047322, nsv1044814, nsv1041816, nsv1035777, nsv1052863, nsv1038159, nsv1038225, nsv1054774, nsv1053511, nsv1040031, nsv1046222, nsv1036335, nsv1037829, nsv1049629, nsv1036652, nsv1037333, nsv1051849, nsv1042632, nsv1040107, nsv1046991, nsv1044602, nsv1038873, nsv1040643, nsv1039008, nsv1050003, nsv1041939, nsv1045976, nsv1048077, nsv1039478, nsv1046372, nsv1052342, nsv1036303, nsv1041370, nsv1039436, nsv1052045, nsv1035283, nsv1044592, nsv1036785, nsv1037920
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K15, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1759n100
Frequency
Sample Size11257
Observed Gain403
Observed Loss0
Observed Complex0
Frequencyn/a


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