A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727778



Internal ID9962090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69101490..69394428hg38UCSC Ensembl
Outerchr4:69967208..70260146hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38292939
hg19292939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844e201
Supporting Variantsessv6697583, essv6836985, essv6790030, essv6755998, essv6774205, essv6918259, essv6774204, essv6848334, essv6683558, essv6670312, essv6808035, essv6836988, essv6903286, essv6872360, essv6810924, essv6730426, essv6829741, essv6679968, essv6670314, essv6742749, essv6679971, essv6697585, essv6869340, essv6829740, essv6973887, essv6899287, essv6675031, essv6872363, essv6798352, essv6848333, essv6805055, essv6785915, essv6918266, essv6918264, essv6938508, essv6757062, essv6875326, essv6844544, essv6805053, essv6711405, essv6903287, essv6889750, essv6844542, essv6848335, essv6683557, essv6813906, essv6883820, essv6686833, essv6770343, essv6724932, essv6878249, essv6886612, essv6683555, essv6973888, essv6956806, essv6821989, essv6683556, essv6923907, essv6951427, essv6781745, essv6942809, essv6754135, essv6730425, essv6736596, essv6848337, essv6808036, essv6883831, essv6697584, essv6893060, essv6798354, essv6718929, essv6690009, essv6942810, essv6854478, essv6848336, essv6802219, essv6670311, essv6872362, essv6722806, essv6956819, essv6791299, essv6724943, essv6755954, essv6690008, essv6899289, essv6918595, essv6718933, essv6739528, essv6813907, essv6821990, essv6968845, essv6829739, essv6748379, essv6736595, essv6947349, essv6923930, essv6704568, essv6722807, essv6707988, essv6918265, essv6802220, essv6670313, essv6872365, essv6700509, essv6734030, essv6742747, essv6770339, essv6860206, essv6929974, essv6851309, essv6883851, essv6781744, essv6962890, essv6700765, essv6715052, essv6903284, essv6914690, essv6881058, essv6854481, essv6755987, essv6704567, essv6718930, essv6918484, essv6926410, essv6860208, essv6810923, essv6860210, essv6851320, essv6785916, essv6836986, essv6810922, essv6730424, essv6926409, essv6711406
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM090, SSM047, SSM069, SSM029, SSM096, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM016, SSM053, SSM005, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049, SSM056, SSM012
Known GenesUGT2B11, 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)esv2727778
Frequency
Sample Size96
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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