A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718810



Internal ID9953102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53099100..53129049hg38UCSC Ensembl
Outerchr19:53602353..53632302hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3829950
hg1929950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832330, essv6901424, essv6694343, essv6933008, essv6917177, essv6954413, essv6788864, essv6797166, essv6782132, essv6707073, essv6888817, essv6816358, essv6801356, essv6828764, essv6892124, essv6699428, essv6733222, essv6696746, essv6913725, essv6692503, essv6913724, essv6874488, essv6801355, essv6717899, essv6852855, essv6713982, essv6717900, essv6892125, essv6788863, essv6689093, essv6858822, essv6792984, essv6776706, essv6846768, essv6785376, essv6666528, essv6901423, essv6921422, essv6921424, essv6902290, essv6710370, essv6863666, essv6744763, essv6668758, essv6905882, essv6843590, essv6703590, essv6678898, essv6674851, essv6747604, essv6761695, essv6758900, essv6696747, essv6885802, essv6846769, essv6874775, essv6773179, essv6967544, essv6915052, essv6937382, essv6842120, essv6747603, essv6812991, essv6746565, essv6933009, essv6928828, essv6877478, essv6824703, essv6950232, essv6895605, essv6780545, essv6678900, essv6863665, essv6769305, essv6967543, essv6921423, essv6735846, essv6835907, essv6738662, essv6898418, essv6776705, essv6746554, essv6928830, essv6725550, essv6902291, essv6874786, essv6792985, essv6915063, essv6816359, essv6946188, essv6839711, essv6667266, essv6842109, essv6713983, essv6674852, essv6820937, essv6682601, essv6814876, essv6858823, essv6888818, essv6689092, essv6948107, essv6925412, essv6814865, essv6773180, essv6874764, essv6807186, essv6871523, essv6877477, essv6685947, essv6733220, essv6721724, essv6810175, essv6961065, essv6909830, essv6699427, essv6828766, essv6717431, essv6812990, essv6880255, essv6868461, essv6954414, essv6883094, essv6764045, essv6883093, essv6729358, essv6750427, essv6835906, essv6753341
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM056, SSM030, SSM012
Known GenesZNF160, ZNF415
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)esv2718810
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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