A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740646



Internal ID9974989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11532265..11557371hg38UCSC Ensembl
OuterchrY:13687941..13713047hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3825107
hg1925107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1330e201
Supporting Variantsessv6812890, essv6888725, essv6801237, essv6678783, essv6674685, essv6877385, essv6937219, essv6812897, essv6885721, essv6807090, essv6871417, essv6828647, essv6807089, essv6729250, essv6729248, essv6747501, essv6843446, essv6763952, essv6937215, essv6843445, essv6729251, essv6925281, essv6895497, essv6780434, essv6696605, essv6898313, essv6812893, essv6668674, essv6950105, essv6696606, essv6780665, essv6868317, essv6713863, essv6828649, essv6937217, essv6756261, essv6892038, essv6946996, essv6871416, essv6810087, essv6807086, essv6713867, essv6967348, essv6863517, essv6747500, essv6901324, essv6868311, essv6883005, essv6810084, essv6839567, essv6846653, essv6925280, essv6885712, essv6843447, essv6885711, essv6843450, essv6685856, essv6678786, essv6950102, essv6832215, essv6967350, essv6678785, essv6685860, essv6832214, essv6696603, essv6892037, essv6967347, essv6678784, essv6925277, essv6674686, essv6898311, essv6812894, essv6895496, essv6832219, essv6868310, essv6892035, essv6871412, essv6883006, essv6674682, essv6780599, essv6744668, essv6729245, essv6898314, essv6744667, essv6696607, essv6877381, essv6843448, essv6888718, essv6828646, essv6868318, essv6846655, essv6921242, essv6780433, essv6863518, essv6816250, essv6839569, essv6839571, essv6835788, essv6816255, essv6921247, essv6898312, essv6888723, essv6756260, essv6744666, essv6863514, essv6877384, essv6801238, essv6874367, essv6871419, essv6807085, essv6824583, essv6835790, essv6846659, essv6832216, essv6780431, essv6901323, essv6871410, essv6835796, essv6950103, essv6828648, essv6874368, essv6871411, essv6780676, essv6892042, essv6839570, essv6839568, essv6780610, essv6678782, essv6901327, essv6832217, essv6780429, essv6901325, essv6846660, essv6807083, essv6780687, essv6839572, essv6874371, essv6835789, essv6780428, essv6713862, essv6901326, essv6868319, essv6917036, essv6895500, essv6780430, essv6729249, essv6756256, essv6925276, essv6921245, essv6917039, essv6874370, essv6678789, essv6807088, essv6846652, essv6839576, essv6747498, essv6883007, essv6921244, essv6868312, essv6807084, essv6763951, essv6674684, essv6810089, essv6744664, essv6816249, essv6946985, essv6868314, essv6756257, essv6892041, essv6828645, essv6880161, essv6946952, essv6892046, essv6892040, essv6674683, essv6888721, essv6925278, essv6839573, essv6810085, essv6801239, essv6812896, essv6921246, essv6880160, essv6895498, essv6892039, essv6871414, essv6895495, essv6816252, essv6812895, essv6832218, essv6883001, essv6888720, essv6678787, essv6696608, essv6871415, essv6888717, essv6892036, essv6824582, essv6738550, essv6846657, essv6901322, essv6738551, essv6950107, essv6828650, essv6674688, essv6820785, essv6729246, essv6921243, essv6901320, essv6810086, essv6877383, essv6713866, essv6880163, essv6883003, essv6946963, essv6843449, essv6801236, essv6888724, essv6877382, essv6868313, essv6816251, essv6685859, essv6801240, essv6917035, essv6883002, essv6820783, essv6839577, essv6967349, essv6917042, essv6871413, essv6696602, essv6871408, essv6846658, essv6917037, essv6801241, essv6917038, essv6885719, essv6824581, essv6892045, essv6820784, essv6885713, essv6685857, essv6756258, essv6937213, essv6874372, essv6863515, essv6713864, essv6868315, essv6835786, essv6863516, essv6937216, essv6898318, essv6880162, essv6937214, essv6729247, essv6835797
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM050, SSM074, SSM042, SSM088, SSM058, SSM092, SSM084, SSM090, SSM021, SSM018, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM034, SSM099, SSM098, SSM030
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)esv2740646
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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