A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718786



Internal ID9953078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52519386..52978650hg38UCSC Ensembl
Outerchr19:53022639..53481903hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38459265
hg19459265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773175, essv6888814, essv6842087, essv6868456, essv6753338, essv6682594, essv6835900, essv6773174, essv6902288, essv6689089, essv6682595, essv6852852, essv6883090, essv6756374, essv6839701, essv6925409, essv6756378, essv6764040, essv6898416, essv6788860, essv6685945, essv6710368, essv6810173, essv6810174, essv6832327, essv6780544, essv6954409, essv6835904, essv6784693, essv6785042, essv6721720, essv6692497, essv6843581, essv6863658, essv6843583, essv6948063, essv6874742, essv6692500, essv6707070, essv6666526, essv6814843, essv6769304, essv6868454, essv6895602, essv6666523, essv6814821, essv6950227, essv6801350, essv6685941, essv6746510, essv6797161, essv6807184, essv6933004, essv6917171, essv6863659, essv6835896, essv6738659, essv6750426, essv6692498, essv6801351, essv6846767, essv6941480, essv6909824, essv6921420, essv6738660, essv6782077, essv6917175, essv6678896, essv6824699, essv6888815, essv6937380, essv6741940, essv6785153, essv6941482, essv6863662, essv6699425, essv6812986, essv6967541, essv6961063, essv6946186, essv6950226, essv6733218, essv6895603, essv6971980, essv6905880, essv6733217, essv6858818, essv6928824, essv6747600, essv6758895, essv6871518, essv6685942, essv6689087, essv6685944, essv6692496, essv6807181, essv6696741, essv6892118, essv6946183, essv6921416, essv6747601, essv6937379, essv6807180, essv6883091, essv6928823, essv6946182, essv6782110, essv6703589, essv6744761, essv6717893, essv6913721, essv6971979, essv6766384, essv6868455, essv6828761, essv6744757, essv6682597, essv6909825, essv6880254, essv6971981, essv6717894, essv6874483, essv6766385, essv6892119, essv6885798, essv6950230, essv6769303, essv6883088, essv6744758, essv6816356, essv6901420, essv6707069, essv6909826, essv6741939, essv6717409, essv6696742, essv6852851, essv6948074, essv6807182, essv6921419, essv6782088, essv6725548, essv6703588, essv6735845, essv6816355, essv6801349, essv6946184, essv6666521, essv6782066, essv6885799, essv6902289, essv6839706, essv6874731, essv6674848, essv6839700, essv6941481, essv6843580, essv6905879, essv6797160, essv6797162, essv6674849, essv6694321, essv6820930, essv6948052, essv6678895, essv6863660, essv6868460, essv6901419, essv6776704, essv6883089, essv6713980, essv6812985, essv6721719, essv6792982, essv6961064, essv6758896, essv6842098, essv6668757, essv6784931, essv6877472, essv6905878, essv6954410, essv6804244, essv6967542, essv6780542, essv6735844, essv6892117, essv6914996, essv6915007, essv6915041, essv6946187, essv6733216, essv6696740, essv6792981, essv6868457, essv6667254, essv6941483, essv6868458, essv6839703, essv6835901, essv6871519, essv6788859, essv6797163, essv6928825, essv6877473
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesZNF137P, ZNF28, ZNF320, ZNF321P, ZNF468, ZNF600, ZNF611, ZNF701, ZNF702P, ZNF808, ZNF816, ZNF816-ZNF321P, ZNF83
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)esv2718786
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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