A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724081



Internal ID9958382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25231138..25584678hg38UCSC Ensembl
Outerchr22:25627105..25980645hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38353541
hg19353541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731e201
Supporting Variantsessv6843677, essv6747648, essv6696803, essv6954473, essv6780627, essv6725623, essv6909870, essv6813032, essv6694654, essv6898467, essv6729418, essv6735878, essv6913779, essv6835973, essv6810212, essv6868537, essv6950306, essv6950309, essv6741985, essv6898465, essv6961170, essv6788917, essv6710418, essv6839772, essv6729413, essv6921500, essv6925482, essv6804281, essv6928887, essv6744803, essv6797235, essv6895668, essv6725625, essv6756415, essv6747065, essv6835974, essv6773233, essv6950308, essv6898466, essv6877537, essv6815465, essv6780623, essv6784747, essv6773234, essv6852927, essv6846823, essv6941542, essv6717957, essv6769345, essv6717959, essv6843673, essv6694665, essv6948529, essv6905926, essv6797232, essv6895671, essv6721799, essv6692563, essv6858901, essv6666626, essv6925486, essv6773235, essv6789710, essv6972049, essv6725627, essv6967621, essv6921502, essv6789598, essv6928883, essv6892167, essv6707115, essv6895667, essv6888860, essv6674937, essv6766417, essv6717960, essv6729414, essv6733291, essv6946253, essv6733292, essv6815410, essv6780626, essv6909874, essv6804280, essv6696801, essv6689122, essv6668794, essv6954475, essv6729417, essv6921501, essv6839771, essv6835975, essv6917227, essv6925480, essv6871570, essv6828814, essv6699460, essv6909871, essv6909869, essv6832385, essv6813029, essv6764077, essv6707114, essv6863736, essv6735877, essv6689120, essv6928888, essv6871573, essv6717843, essv6901461, essv6747647, essv6905932, essv6667722, essv6820985, essv6846825, essv6877535, essv6902332, essv6793056, essv6790043, essv6782843, essv6843675, essv6780624, essv6784750, essv6880296, essv6667744, essv6905931, essv6797236, essv6909872, essv6801427, essv6764074, essv6905927, essv6874559, essv6843674, essv6852929, essv6761736, essv6925481, essv6685994, essv6871571, essv6813030, essv6769346, essv6815443, essv6863735, essv6685997, essv6733293, essv6784751, essv6913777, essv6667733, essv6668793, essv6721800, essv6839769, essv6868538, essv6937443, essv6972047, essv6729416, essv6769344, essv6714044, essv6694643, essv6941541, essv6782832, essv6928886, essv6793060, essv6948540, essv6810211, essv6793057, essv6937444, essv6773232, essv6761737, essv6877536, essv6753378, essv6905928, essv6776751, essv6741984, essv6807226, essv6858903, essv6913778, essv6773236, essv6674938, essv6917228, essv6839770, essv6941543, essv6875208, essv6725626, essv6948551, essv6780625, essv6780628, essv6954474, essv6946252, essv6842564, essv6804282, essv6714045, essv6858902, essv6788916, essv6868539, essv6725624, essv6782787, essv6696802, essv6674936, essv6747054, essv6885838, essv6846824, essv6815432, essv6721797, essv6815454, essv6793059, essv6782821, essv6789932, essv6816411, essv6832386, essv6667755, essv6801428, essv6784748, essv6696800, essv6692564, essv6797237, essv6793061, essv6714046, essv6797234, essv6738691, essv6874558, essv6769343, essv6747076, essv6793058, essv6925483, essv6892168, essv6815421, essv6961169, essv6782809, essv6782798, essv6913780, essv6895669, essv6789821, essv6928885, essv6707113, essv6885839, essv6946254, essv6875197, essv6766418, essv6710417, essv6797233, essv6729415, essv6714041, essv6758933, essv6871569, essv6868540, essv6852928, essv6880299, essv6961171, essv6801429, essv6895670, essv6764076, essv6810213, essv6880297, essv6666627, essv6685995, essv6744802, essv6972048, essv6842553, essv6842542, essv6824759, essv6685996, essv6888861, essv6717958, essv6714040, essv6874557, essv6909868, essv6788918, essv6784749
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, 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, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesADRBK2, CRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
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)esv2724081
Frequency
Sample Size96
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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