A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727775



Internal ID9962087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68798485..69457139hg38UCSC Ensembl
Outerchr4:69664203..70322857hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38658655
hg19658655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785914, essv6670307, essv6756009, essv6889748, essv6844542, essv6906968, essv6755976, essv6851276, essv6893060, essv6821986, essv6896433, essv6679967, essv6962890, essv6707988, essv6833355, essv6934182, essv6938506, essv6777709, essv6790026, essv6813905, essv6956171, essv6757064, essv6899287, essv6679970, essv6922613, essv6700511, essv6730424, essv6676037, essv6813906, essv6781741, essv6968843, essv6889747, essv6918258, essv6794176, essv6802217, essv6962888, essv6790029, essv6790028, essv6869343, essv6914693, essv6893059, essv6929972, essv6860205, essv6693682, essv6918373, essv6762333, essv6748380, essv6707986, essv6770341, essv6864999, essv6734029, essv6755965, essv6922614, essv6730421, essv6918484, essv6851298, essv6736594, essv6825888, essv6869341, essv6730423, essv6886611, essv6683553, essv6754137, essv6883820, essv6745555, essv6851819, essv6810920, essv6686830, essv6889746, essv6829739, essv6810918, essv6942808, essv6707984, essv6926406, essv6704563, essv6722805, essv6910863, essv6810919, essv6697583, essv6785915, essv6704566, essv6833356, essv6973886, essv6679965, essv6683550, essv6718928, essv6875325, essv6860206, essv6825889, essv6762334, essv6860207, essv6821987, essv6670306, essv6805050, essv6670308, essv6956172, essv6883842, essv6704569, essv6903282, essv6968844, essv6759656, essv6736595, essv6947347, essv6822499, essv6886612, essv6848333, essv6962889, essv6854477, essv6798351, essv6938509, essv6700509, essv6700507, essv6686831, essv6755943, essv6781744, essv6726660, essv6899286, essv6770338, essv6926408, essv6914691, essv6704564, essv6872360, essv6883853, essv6724920, essv6881055, essv6872361, essv6844545, essv6947348, essv6923918, essv6707985, essv6906969, essv6881057, essv6893058, essv6810922, essv6718929, essv6711405, essv6956841, essv6918259, essv6906972, essv6697581, essv6770339, essv6878247, essv6690008, essv6757061, essv6848332, essv6726661, essv6872366, essv6724932, essv6711402, essv6739529, essv6808037, essv6903283, essv6821989, essv6794175, essv6956173, essv6791288, essv6711404, essv6973885, essv6785913, essv6679969, essv6918261, essv6938505, essv6739526, essv6813903, essv6851265, essv6951426, essv6956175, essv6722804, essv6860204, essv6854478, essv6742748, essv6774204, essv6675020, essv6808033, essv6683551, essv6926409, essv6690007, essv6923907, essv6730422, essv6910861, essv6777713, essv6903284, essv6748378, essv6802218, essv6825886, essv6700508, essv6840798, essv6718927, essv6755954, essv6840799, essv6676035, essv6875327, essv6802219, essv6798350, essv6910864, essv6813904, essv6906970, essv6711403, essv6757063, essv6854479, essv6676034, essv6883808, essv6918260, essv6676036, essv6670305, essv6914692, essv6745553, essv6722806, essv6881056, essv6869339, essv6745552, essv6697582, essv6878248, essv6956830, essv6774203, essv6889749, essv6810917, essv6764701, essv6790027, essv6829738, essv6973890, essv6889751, essv6739525, essv6707983, essv6683552, essv6836985, essv6767151, essv6777712, essv6805051, essv6942807, essv6851287, essv6872359, essv6704562, essv6754134, essv6854480, essv6854475, essv6715051, essv6739527, essv6836984, essv6679968, essv6864998, essv6929971, essv6805052, essv6686829, essv6956806, essv6724954, essv6781742, essv6938508, essv6770340, essv6683555, essv6896431, essv6808034, essv6840800, essv6947346, essv6906971, essv6670311, essv6817563, essv6794178, essv6742747
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, 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, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesUGT2A3, UGT2B10, UGT2B11, UGT2B28, UGT2B7
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)esv2727775
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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