A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720400



Internal ID9954696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95855884..97536229hg38UCSC Ensembl
Outerchr2:96521632..98152692hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381680346
hg191631061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv607e201
Supporting Variantsessv6886237, essv6972975, essv6729957, essv6821520, essv6902853, essv6748045, essv6726190, essv6726191, essv6671854, essv6922105, essv6910413, essv6883506, essv6710924, essv6689588, essv6756780, essv6844175, essv6762047, essv6736241, essv6787489, essv6675542, essv6762045, essv6933678, essv6807634, essv6721410, essv6756781, essv6777280, essv6896090, essv6829322, essv6722328, essv6750868, essv6910412, essv6759315, essv6836527, essv6950912, essv6946837, essv6829321, essv6874976, essv6726189, essv6962097, essv6810582, essv6917789, essv6871984, essv6714590, essv6955345, essv6777281, essv6804684, essv6836526, essv6801879, essv6883504, essv6844178, essv6874977, essv6968334, essv6813473, essv6751686, essv6821932, essv6789544, essv6925991, essv6859583, essv6739116, essv6962094, essv6902854, essv6853754, essv6953028, essv6874979, essv6781249, essv6679520, essv6667080, essv6864381, essv6846887, essv6871985, essv6972977, essv6898878, essv6874978, essv6819265, essv6962096, essv6892637, essv6756784, essv6683122, essv6953006, essv6787453, essv6704161, essv6846876, essv6906448, essv6797825, essv6822154, essv6825353, essv6697232, essv6769872, essv6883505, essv6816979, essv6733716, essv6810581, essv6793670, essv6787500, essv6777279, essv6938037, essv6686440, essv6917788, essv6819276, essv6787511, essv6822043, essv6721421, essv6864384, essv6942201, essv6847568, essv6972974, essv6889300, essv6751697, essv6697898, essv6686441, essv6847569, essv6880667, essv6807635, essv6933677, essv6718496, essv6879798, essv6844179, essv6759317, essv6773772, essv6756783, essv6787475, essv6671843, essv6773771, essv6785373, essv6729958, essv6919740, essv6942202, essv6914272, essv6925990, essv6864383, essv6762048, essv6919762, essv6697235, essv6778598, essv6925992, essv6864382, essv6816981, essv6704162, essv6787442, essv6753771, essv6938039, essv6721388, essv6914273, essv6896091, essv6721432, essv6968333, essv6764397, essv6933676, essv6697887, essv6759316, essv6753770, essv6892638, essv6686442, essv6667078, essv6914275, essv6736240, essv6669523, essv6751675, essv6955344, essv6750869, essv6797827, essv6699997, essv6938038, essv6906449, essv6832907, essv6669524, essv6801880, essv6675544, essv6671865, essv6938035, essv6683123, essv6807636, essv6864385, essv6953017, essv6718497, essv6880669, essv6745192, essv6825355, essv6742410, essv6751709, essv6669525, essv6853757, essv6972976, essv6910414, essv6769873, essv6764396, essv6736243, essv6853756, essv6779709, essv6853755, essv6785374, essv6707570, essv6721399, essv6697234, essv6868982, essv6697909, essv6693162, essv6859584, essv6929457, essv6751664, essv6942199, essv6781931, essv6748044, essv6962098, essv6742408, essv6762046, essv6697233, essv6879787, essv6871983, essv6840323, essv6832906, essv6693163, essv6972972, essv6756782, essv6864386, essv6710925, essv6693164, essv6722329, essv6847567, essv6726192, essv6787464, essv6773773, essv6859582, essv6710926, essv6880668, essv6877913, essv6787522, essv6667079, essv6922107, essv6780820, essv6919751, essv6766794, essv6816980, essv6946836, essv6781248, essv6953040, essv6821820, essv6739117, essv6868984, essv6733717, essv6868983, essv6892639, essv6797826, essv6950913, essv6667081, essv6942200, essv6844176, essv6938036, essv6669526, essv6836525, essv6902851, essv6739118
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 GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
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)esv2720400
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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