A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721624



Internal ID9955921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232324203..232441828hg38UCSC Ensembl
Outerchr2:233188913..233306538hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38117626
hg19117626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv632e201
Supporting Variantsessv6804778, essv6946972, essv6766877, essv6672654, essv6953962, essv6714695, essv6793778, essv6752742, essv6722441, essv6689690, essv6785506, essv6850819, essv6797958, essv6810677, essv6752753, essv6892737, essv6789644, essv6739240, essv6700130, essv6777389, essv6781379, essv6769999, essv6848120, essv6869077, essv6801965, essv6745289, essv6926088, essv6869074, essv6853041, essv6892738, essv6679627, essv6942344, essv6821635, essv6864543, essv6898992, essv6789642, essv6730059, essv6962318, essv6922234, essv6920806, essv6698575, essv6750957, essv6804780, essv6762119, essv6764478, essv6756860, essv6853957, essv6847774, essv6933799, essv6672665, essv6722365, essv6718595, essv6748133, essv6722377, essv6726302, essv6833018, essv6886318, essv6711033, essv6853956, essv6864544, essv6753877, essv6889424, essv6785508, essv6829432, essv6753876, essv6801964, essv6679629, essv6829264, essv6917915, essv6718596, essv6697329, essv6917918, essv6920818, essv6821637, essv6849708, essv6797957, essv6833017, essv6902964, essv6707673, essv6704253, essv6759404, essv6848131, essv6667129, essv6933798, essv6700131, essv6825504, essv6914372, essv6762122, essv6733796, essv6693298, essv6946973, essv6851930, essv6829434, essv6864545, essv6844268, essv6804779, essv6679628, essv6938145, essv6889423, essv6917916, essv6821636, essv6836631, essv6929582, essv6840433, essv6807755, essv6759402, essv6968457, essv6700133, essv6872079, essv6739239, essv6675667, essv6889420, essv6813563, essv6714694, essv6883594, essv6829433, essv6693300, essv6707675, essv6973235, essv6910528, essv6886320, essv6880757, essv6829042, essv6750958, essv6810674, essv6773878, essv6669738, essv6704252, essv6955555, essv6756863, essv6686548, essv6889422, essv6929583, essv6869075, essv6726303, essv6759403, essv6807757, essv6733797, essv6722442, essv6859763, essv6840432, essv6781380, essv6875073, essv6686547, essv6756861, essv6736346, essv6707674, essv6698586, essv6878002, essv6962319, essv6788476, essv6825503, essv6817146, essv6926089, essv6910527, essv6829153, essv6793779, essv6788454, essv6759405, essv6756862, essv6689689, essv6875074, essv6810675, essv6953951, essv6872080, essv6951033, essv6752764, essv6853958, essv6933800, essv6770000, essv6933797, essv6813562, essv6785507, essv6896168, essv6847773, essv6836633, essv6762121, essv6807756, essv6745290, essv6942345, essv6788465
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, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)esv2721624
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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