A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715954



Internal ID9950241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43306058..43388637hg38UCSC Ensembl
Outerchr17:41383420..41466005hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3882580
hg1982586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741629, essv6871228, essv6744474, essv6928512, essv6874164, essv6735611, essv6936937, essv6809896, essv6703169, essv6901939, essv6692173, essv6953989, essv6806886, essv6756066, essv6776351, essv6852284, essv6685637, essv6863192, essv6920947, essv6725177, essv6824311, essv6885530, essv6820467, essv6846477, essv6772774, essv6706833, essv6696291, essv6766155, essv6682226, essv6682227, essv6879970, essv6678513, essv6784300, essv6758671, essv6691721, essv6824309, essv6728980, essv6913311, essv6971568, essv6744477, essv6674274, essv6715087, essv6728979, essv6710054, essv6753045, essv6885529, essv6674273, essv6803984, essv6688841, essv6717506, essv6766156, essv6932623, essv6901127, essv6882815, essv6944528, essv6879971, essv6888548, essv6735608, essv6811465, essv6816034, essv6743565, essv6738367, essv6756067, essv6898127, essv6703170, essv6945737, essv6812711, essv6753044, essv6877193, essv6713607, essv6898128, essv6721361, essv6868000, essv6750125, essv6699191, essv6895267, essv6713608, essv6665834, essv6806885, essv6941087, essv6888547, essv6696292, essv6858260, essv6835539, essv6744475, essv6758672, essv6966925, essv6839575, essv6839324, essv6776353, essv6949809, essv6909510, essv6932624, essv6925002, essv6778099, essv6891829, essv6966924, essv6792573, essv6780140, essv6665835, essv6852285, essv6916781, essv6949810, essv6913312, essv6976840, essv6916780, essv6685636, essv6831971, essv6741628, essv6792574, essv6721362, essv6960441, essv6761448, essv6750126, essv6747307, essv6732841, essv6971567, essv6843176, essv6763813, essv6692174, essv6839325, essv6953990, essv6788484, essv6778110, essv6803983, essv6960442, essv6905557, essv6769028, essv6715076, essv6800972, essv6835540, essv6738366, essv6944517, essv6796751, essv6901128, essv6668558, essv6811476, essv6941088, essv6763814, essv6710056, essv6976851, essv6747308, essv6871229, essv6858259, essv6877192, essv6668557, essv6743554, essv6761931, essv6725178
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesLINC00910
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)esv2715954
Frequency
Sample Size96
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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