A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718796



Internal ID9953088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52683261..52978650hg38UCSC Ensembl
Outerchr19:53186514..53481903hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38295390
hg19295390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901422, essv6909827, essv6877474, essv6868456, essv6753338, essv6682594, essv6801353, essv6713981, essv6666524, essv6689089, essv6682595, essv6839702, essv6883090, essv6788862, essv6816354, essv6921417, essv6839701, essv6933007, essv6898416, essv6788860, essv6915018, essv6692501, essv6685945, essv6710368, essv6746521, essv6810173, essv6810174, essv6780544, essv6753340, essv6814832, essv6835904, essv6682596, essv6843584, essv6915029, essv6785042, essv6835902, essv6721720, essv6692497, essv6843581, essv6892122, essv6807183, essv6696745, essv6764044, essv6843583, essv6948063, essv6761694, essv6874742, essv6852854, essv6921421, essv6971982, essv6839707, essv6917172, essv6725549, essv6877476, essv6692500, essv6707070, essv6744759, essv6666526, essv6782121, essv6746543, essv6814843, essv6666525, essv6769304, essv6892120, essv6814821, essv6950227, essv6801350, essv6746510, essv6758899, essv6807184, essv6933004, essv6917171, essv6773177, essv6747602, essv6925410, essv6710369, essv6812989, essv6835896, essv6733219, essv6750426, essv6950228, essv6788861, essv6925411, essv6801351, essv6832329, essv6839705, essv6846767, essv6824701, essv6801352, essv6921420, essv6871521, essv6738660, essv6917175, essv6666527, essv6678896, essv6824699, essv6689091, essv6820931, essv6888815, essv6937380, essv6694310, essv6785153, essv6954411, essv6892123, essv6885800, essv6814854, essv6863662, essv6699425, essv6812986, essv6917173, essv6814798, essv6868459, essv6946186, essv6733218, essv6895603, essv6971980, essv6905880, essv6733217, essv6928824, essv6758895, essv6917176, essv6685942, essv6835905, essv6685944, essv6784694, essv6812988, essv6807185, essv6685946, essv6820934, essv6744760, essv6946183, essv6747601, essv6895604, essv6863661, essv6948085, essv6696744, essv6699426, essv6785265, essv6820935, essv6883091, essv6721723, essv6782110, essv6874753, essv6843582, essv6703589, essv6744761, essv6756380, essv6792983, essv6797164, essv6814809, essv6937381, essv6828761, essv6874485, essv6928826, essv6682597, essv6694332, essv6721722, essv6758897, essv6971981, essv6717894, essv6832328, essv6746532, essv6905881, essv6820936, essv6766385, essv6913723, essv6689090, essv6892119, essv6950230, essv6769303, essv6816356, essv6901420, essv6928827, essv6692502, essv6909826, essv6741941, essv6941486, essv6824702, essv6717409, essv6696742, essv6948074, essv6807182, essv6843586, essv6921419, essv6782088, essv6735845, essv6816355, essv6804245, essv6902289, essv6839706, essv6753339, essv6717895, essv6905879, essv6773178, essv6885801, essv6678897, essv6797162, essv6674849, essv6694321, essv6707072, essv6909828, essv6954412, essv6717896, essv6950231, essv6678895, essv6868460, essv6883092, essv6776704, essv6766386, essv6843585, essv6674850, essv6721719, essv6874484, essv6792982, essv6933005, essv6816357, essv6961064, essv6758896, essv6842098, essv6871522, essv6746488, essv6954410, essv6746499, essv6750425, essv6756379, essv6744762, essv6804244, essv6967542, essv6824700, essv6717897, essv6764043, essv6948096, essv6863663, essv6913722, essv6915007, essv6915041, essv6776703, essv6828762, essv6946187, essv6828763, essv6868457, essv6682600, essv6782099, essv6941483, essv6868458, essv6858819, essv6839703, essv6898417, essv6707071, essv6738661, essv6797163, essv6928825, essv6729356, essv6839704, essv6877473, essv6717420, essv6773175, essv6835897, essv6888814, essv6888816
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, 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, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesZNF28, ZNF320, ZNF321P, ZNF468, ZNF600, ZNF611, ZNF702P, 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)esv2718796
Frequency
Sample Size96
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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