A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718235



Internal ID10301871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15616082..15677993hg38UCSC Ensembl
Outerchr19:15726893..15788803hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3861912
hg1961911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756312, essv6843507, essv6835850, essv6898351, essv6693809, essv6921319, essv6682525, essv6902217, essv6835852, essv6717810, essv6696682, essv6937297, essv6792903, essv6797093, essv6668715, essv6914485, essv6776658, essv6950161, essv6950159, essv6678848, essv6766332, essv6967453, essv6858722, essv6761649, essv6745876, essv6763996, essv6713926, essv6971911, essv6941411, essv6824635, essv6797091, essv6674768, essv6925338, essv6846704, essv6820856, essv6921320, essv6776659, essv6692428, essv6885752, essv6932927, essv6674767, essv6801293, essv6928769, essv6858724, essv6874423, essv6824631, essv6733151, essv6874422, essv6971910, essv6703519, essv6947429, essv6733157, essv6703522, essv6721660, essv6710325, essv6788797, essv6666489, essv6852765, essv6871467, essv6797092, essv6812930, essv6717811, essv6914473, essv6913648, essv6913653, essv6883051, essv6874097, essv6773108, essv6895549, essv6780479, essv6832264, essv6735803, essv6892078, essv6801297, essv6693821, essv6839637, essv6707005, essv6807127, essv6928772, essv6713925, essv6707002, essv6941408, essv6868380, essv6917097, essv6710324, essv6747553, essv6725481, essv6696679, essv6909761, essv6941406, essv6753277, essv6954332, essv6824633, essv6914496, essv6937298, essv6716765, essv6950160, essv6758857, essv6780487, essv6773110, essv6960970, essv6917099, essv6773111, essv6937301, essv6932934, essv6666405, essv6960966, essv6814098, essv6733152, essv6895548, essv6729305, essv6877426, essv6666511, essv6735802, essv6880206, essv6685901, essv6877427, essv6703520, essv6885755, essv6696678, essv6913650, essv6812933
SamplesSSM059, SSM036, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM009, SSM093, SSM074, SSM042, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM037, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesCYP4F12, CYP4F3, CYP4F8
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718235
Frequency
Sample Size96
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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