A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735272



Internal ID9969602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142456631..142486291hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg1929661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1119e201
Supporting Variantsessv6805757, essv6919260, essv6749018, essv6890546, essv6939410, essv6975447, essv6948203, essv6694611, essv6904070, essv6705389, essv6705386, essv6870086, essv6782583, essv6837797, essv6799263, essv6887321, essv6727496, essv6687582, essv6778588, essv6694607, essv6893884, essv6828687, essv6834136, essv6826792, essv6858464, essv6799261, essv6870084, essv6866061, essv6923435, essv6858453, essv6939411, essv6943867, essv6837796, essv6712203, essv6676952, essv6701493, essv6808723, essv6866062, essv6907975, essv6754849, essv6891044, essv6907978, essv6964330, essv6814672, essv6666377, essv6931973, essv6939409, essv6754846, essv6694608, essv6681587, essv6723611, essv6822792, essv6762867, essv6790905, essv6723609, essv6771180, essv6861338, essv6723612, essv6841605, essv6897041, essv6893883, essv6757641, essv6754848, essv6808719, essv6727494, essv6873075, essv6811623, essv6760316, essv6712205, essv6948208, essv6690811, essv6881711, essv6964331, essv6706020, essv6911694, essv6698163, essv6881713, essv6762868, essv6826796, essv6754850, essv6684334, essv6849730, essv6708752, essv6887322, essv6715890, essv6737250, essv6740314, essv6919264, essv6666821, essv6681610, essv6705390, essv6799262, essv6964384, essv6893888, essv6900006, essv6884514, essv6790903, essv6723608, essv6964395, essv6927156, essv6900008, essv6948204, essv6814674, essv6798733, essv6767836, essv6687583, essv6876025, essv6811624, essv6771182, essv6878892, essv6719805, essv6866059, essv6957634, essv6830536, essv6904069, essv6861336, essv6786797, essv6723607, essv6719803, essv6666932, essv6705385, essv6774917, essv6964327, essv6757639, essv6927155, essv6666599, essv6891055, essv6902918, essv6712204, essv6719802, essv6876026, essv6873079, essv6957631, essv6911693, essv6878894, essv6690808, essv6743433, essv6861339, essv6943868, essv6715892, essv6952294, essv6814671, essv6790904, essv6890547, essv6737249, essv6930846, essv6845270, essv6746205, essv6849729, essv6828698, essv6935126, essv6881712, essv6786799, essv6701494, essv6734613, essv6826794, essv6893886, essv6975449, essv6931962, essv6731238, essv6834137, essv6923437, essv6887318, essv6764176, essv6802857, essv6811628, essv6811627, essv6834133, essv6771181, essv6927154, essv6731239, essv6667760, essv6931984, essv6765247, essv6751888, essv6930845, essv6795055, essv6808718, essv6902896, essv6684333, essv6891077, essv6935128, essv6680750, essv6948198, essv6873078, essv6822793, essv6676954, essv6719801, essv6826791, essv6799264, essv6765245, essv6826793, essv6727495, essv6858442, essv6923434, essv6890545, essv6855789, essv6884513, essv6754847, essv6866058, essv6681599, essv6671688, essv6826795, essv6708751, essv6795057, essv6834134, essv6870088, essv6919261, essv6907973, essv6861337, essv6782586, essv6952293, essv6930843, essv6811626, essv6743428, essv6719804, essv6870090, essv6943866, essv6830534, essv6830535, essv6969794, essv6774914, essv6808720, essv6757642, essv6808722, essv6881714, essv6754852, essv6760318, essv6845268, essv6826797, essv6706043, essv6927159, essv6731542, essv6870089, essv6774915, essv6927157, essv6690810, essv6948205, essv6676953, essv6795056, essv6878893, essv6765243, essv6743430, essv6826799, essv6671686, essv6957632, essv6855790, essv6919258, essv6778585, essv6826800, essv6719806, essv6969792, essv6751885, essv6900007, essv6680749, essv6764154, essv6837799, essv6818668, essv6915394, essv6887320, essv6828721, essv6845267, essv6866057, essv6798744, essv6887323, essv6822794, essv6712202, essv6964417, essv6948206, essv6743427, essv6948200, essv6866060, essv6757640, essv6757645, essv6684335, essv6762870, essv6734611, essv6907976, essv6841603, essv6782585, essv6694606
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, 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, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesPRSS1, PRSS2, PRSS3P2
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)esv2735272
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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