A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714419



Internal ID10298055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46389568..46465915hg38UCSC Ensembl
Outerchr16:46423480..46499827hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3876348
hg1976348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv366e201
Supporting Variantsessv6901817, essv6949675, essv6867849, essv6768921, essv6932452, essv6966681, essv6885443, essv6867846, essv6846370, essv6966679, essv6911907, essv6843015, essv6750046, essv6674061, essv6975873, essv6717352, essv6945578, essv6838531, essv6852069, essv6699119, essv6690955, essv6863049, essv6742420, essv6901041, essv6885441, essv6721240, essv6877086, essv6949677, essv6792418, essv6784158, essv6784152, essv6835409, essv6960206, essv6936761, essv6871149, essv6812623, essv6696138, essv6882717, essv6810343, essv6885438, essv6665548, essv6665526, essv6796605, essv6784167, essv6863046, essv6895160, essv6665528, essv6928378, essv6815927, essv6863052, essv6696137, essv6882722, essv6721242, essv6916652, essv6843022, essv6674052, essv6690933, essv6779995, essv6688720, essv6863050, essv6940925, essv6843014, essv6871139, essv6788331, essv6920778, essv6867842, essv6870786, essv6905432, essv6863048, essv6839200, essv6901040, essv6665553, essv6928370, essv6824182, essv6901816, essv6788338, essv6732693, essv6728840, essv6945581, essv6905433, essv6891740, essv6891737, essv6706693, essv6696139, essv6913153, essv6909425, essv6916646, essv6806783, essv6725032, essv6960204, essv6953836, essv6971403, essv6932459, essv6806785, essv6953835, essv6792417, essv6824181, essv6945583, essv6870876, essv6940924, essv6674053, essv6838509, essv6696140, essv6744387, essv6966687, essv6709950, essv6949676, essv6940930, essv6742431, essv6852071, essv6735520, essv6966682, essv6966671, essv6871146, essv6824180, essv6888444, essv6721245, essv6924877, essv6779991, essv6721239, essv6692067, essv6776226, essv6800824, essv6928371, essv6772633, essv6852070, essv6838520, essv6960201, essv6838553, essv6909412, essv6858053, essv6975917, essv6784165, essv6713486, essv6699123, essv6936760, essv6867847, essv6820314, essv6779993, essv6674059, essv6971405, essv6891736, essv6796609, essv6945580, essv6895161, essv6913154, essv6960203, essv6831815, essv6800818, essv6674056, essv6975862, essv6916656, essv6742542, essv6879880, essv6949679, essv6932454, essv6966678, essv6796607, essv6735525, essv6888419, essv6682084, essv6728839, essv6975906, essv6945577, essv6891741, essv6870854, essv6888441, essv6831847, essv6975895, essv6913155, essv6870898, essv6776810, essv6895156, essv6909413, essv6815924, essv6674057, essv6843018, essv6943339, essv6839203, essv6867848, essv6788337, essv6953837, essv6843017, essv6909422, essv6703028, essv6803889, essv6699122, essv6874072, essv6690944, essv6940923, essv6688737, essv6784160, essv6920774, essv6800816, essv6936766, essv6909423, essv6928372, essv6800826, essv6949678, essv6678386, essv6966670, essv6812620, essv6905431, essv6674055, essv6960202, essv6913156, essv6706691, essv6688740, essv6784157, essv6871151, essv6852067, essv6692071, essv6678387, essv6815929, essv6828266, essv6870865, essv6846372, essv6831829, essv6916644, essv6891738, essv6810332, essv6879882, essv6909414, essv6828267, essv6674067, essv6916650, essv6706694, essv6809802, essv6768922, essv6940926, essv6932455, essv6839202, essv6674050, essv6863045, essv6688738, essv6682081, essv6895158, essv6768923, essv6888418, essv6901814, essv6901815, essv6800811, essv6882716, essv6835412, essv6809785, essv6776225, essv6966680, essv6690977, essv6920780, essv6742331, essv6665527, essv6688741, essv6924880, essv6706689, essv6692064, essv6901038, essv6713484, essv6828271, essv6812606, essv6966685, essv6755964, essv6696141, essv6916653, essv6846369, essv6792426, essv6692068, essv6812622, essv6895159, essv6732694, essv6699118, essv6784156, essv6779992, essv6888417, essv6713490, essv6928406, essv6920775, essv6732688, essv6916645, essv6828261, essv6792424, essv6839199, essv6753042, essv6750045, essv6901820, essv6920776, essv6916648, essv6688742, essv6920779, essv6788330, essv6732692, essv6966674, essv6943228, essv6932457, essv6820308, essv6803891, essv6803888, essv6728844, essv6685546, essv6871138, essv6696143, essv6924878, essv6706688, essv6685560, essv6721244, essv6882714, essv6953838, essv6940927, essv6843020, essv6800815, essv6843021, essv6682083, essv6945579, essv6835411, essv6796611, essv6725034, essv6916647, essv6776822, essv6871143, essv6971404, essv6882713, essv6772604, essv6940922, essv6706690, essv6674060
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM098, SSM049, SSM056, SSM012
Known Genes
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)esv2714419
Frequency
Sample Size96
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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