A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724041



Internal ID3274537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23315914..24669376hg38UCSC Ensembl
Outerchr22:23658101..25065343hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381353463
hg191407243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666623, essv6954469, essv6815365, essv6941537, essv6843668, essv6863732, essv6933071, essv6874556, essv6717953, essv6843671, essv6875186, essv6782754, essv6913771, essv6703641, essv6913770, essv6961166, essv6885837, essv6835969, essv6961167, essv6892164, essv6773229, essv6835971, essv6784745, essv6839764, essv6824758, essv6917226, essv6735874, essv6674933, essv6950304, essv6852922, essv6738690, essv6756414, essv6667699, essv6717955, essv6839767, essv6874555, essv6937439, essv6699459, essv6696799, essv6692562, essv6901459, essv6710416, essv6764072, essv6828810, essv6721795, essv6707110, essv6967617, essv6810209, essv6668791, essv6874554, essv6666620, essv6797229, essv6842509, essv6703640, essv6747646, essv6902330, essv6895666, essv6858899, essv6753373, essv6753371, essv6666618, essv6972044, essv6689118, essv6769341, essv6692561, essv6756413, essv6714037, essv6776748, essv6892165, essv6815388, essv6666621, essv6729411, essv6761733, essv6667711, essv6685993, essv6782765, essv6948507, essv6868535, essv6877531, essv6902331, essv6674934, essv6758929, essv6721796, essv6776749, essv6852921, essv6828811, essv6782743, essv6946249, essv6741982, essv6815354, essv6776750, essv6710414, essv6766415, essv6880295, essv6721793, essv6707111, essv6925478, essv6735873, essv6733290, essv6888858, essv6933070, essv6729412, essv6895664, essv6689119, essv6735872, essv6972045, essv6961165, essv6744801, essv6871568, essv6846817, essv6714039, essv6868536, essv6928882, essv6725622, essv6915429, essv6972043, essv6789487, essv6921499, essv6863734, essv6696797, essv6761734, essv6950305, essv6721794, essv6694632, essv6835970, essv6766416, essv6696796, essv6773230, essv6967616, essv6828813, essv6666617, essv6863733, essv6875175, essv6769340, essv6801425, essv6937438, essv6880294, essv6682648, essv6804279, essv6909866, essv6710415, essv6689117, essv6915440, essv6714038, essv6747031, essv6666619, essv6967619, essv6921498, essv6839766, essv6843670, essv6925479, essv6828812, essv6941536, essv6846819, essv6758930, essv6733289, essv6753377, essv6832384, essv6925477, essv6725620, essv6972042, essv6858895, essv6753372, essv6913775, essv6954470, essv6753374, essv6858897, essv6685992, essv6948518, essv6913772, essv6793054, essv6909867, essv6801426, essv6843669, essv6852923, essv6898463, essv6789376, essv6901460, essv6941539, essv6761732, essv6898462, essv6846818, essv6807225, essv6725619, essv6888859, essv6941535, essv6905925, essv6685991, essv6703642, essv6858896, essv6842498, essv6682649, essv6707112, essv6766414, essv6842531, essv6902328, essv6815377, essv6946250, essv6793053, essv6915418, essv6717821, essv6937437, essv6946248, essv6941538, essv6913773, essv6842520, essv6902327
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM039, SSM024, SSM045, SSM083, SSM050, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesADORA2A, ADORA2A-AS1, BCR, BCRP3, C22orf15, C22orf43, CABIN1, CES5AP1, CHCHD10, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL1, LOC284889, LOC391322, MIF, MMP11, POM121L10P, POM121L9P, RGL4, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, UPB1, VPREB3, ZDHHC8P1, ZNF70
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)esv2724041
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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