Variant DetailsVariant: esv2724041 | Internal ID | 9958342 | | Landmark | | | Location Information | | | Cytoband | 22q11.23 | | Allele length | | Assembly | Allele length | | hg38 | 1353463 | | hg19 | 1407243 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv6761733, essv6937437, essv6721795, essv6725620, essv6717955, essv6729411, essv6858895, essv6835971, essv6880295, essv6707112, essv6843671, essv6810209, essv6666619, essv6815354, essv6941538, essv6733290, essv6961165, essv6915418, essv6895664, essv6917226, essv6892165, essv6685992, essv6950305, essv6707111, essv6696796, essv6972043, essv6954470, essv6689117, essv6954469, essv6747031, essv6741982, essv6915429, essv6666623, essv6972045, essv6913771, essv6807225, essv6967617, essv6784745, essv6902330, essv6895666, essv6815388, essv6828810, essv6766415, essv6764072, essv6967619, essv6875186, essv6941535, essv6925479, essv6915440, essv6913775, essv6843670, essv6674933, essv6666621, essv6782743, essv6753372, essv6714039, essv6863733, essv6725622, essv6874555, essv6782765, essv6950304, essv6937439, essv6689118, essv6735872, essv6875175, essv6843669, essv6761732, essv6905925, essv6902331, essv6714038, essv6815365, essv6685991, essv6744801, essv6902328, essv6874556, essv6761734, essv6756414, essv6858896, essv6753374, essv6885837, essv6733289, essv6972042, essv6874554, essv6776748, essv6948507, essv6852923, essv6892164, essv6913773, essv6888859, essv6871568, essv6735873, essv6967616, essv6946250, essv6901459, essv6937438, essv6769341, essv6756413, essv6832384, essv6738690, essv6828813, essv6858899, essv6753373, essv6714037, essv6696797, essv6846817, essv6674934, essv6782754, essv6710416, essv6948518, essv6682649, essv6773229, essv6801425, essv6766414, essv6835970, essv6667699, essv6710414, essv6766416, essv6888858, essv6758929, essv6703640, essv6946248, essv6696799, essv6666617, essv6839767, essv6721793, essv6776750, essv6776749, essv6842531, essv6839766, essv6729412, essv6842509, essv6815377, essv6689119, essv6898463, essv6898462, essv6946249, essv6863734, essv6842498, essv6717821, essv6694632, essv6769340, essv6868535, essv6699459, essv6909866, essv6725619, essv6933071, essv6941536, essv6828811, essv6835969, essv6703641, essv6901460, essv6925477, essv6863732, essv6846819, essv6921499, essv6793053, essv6710415, essv6839764, essv6735874, essv6941537, essv6789487, essv6852921, essv6961167, essv6852922, essv6773230, essv6941539, essv6753371, essv6721794, essv6824758, essv6753377, essv6721796, essv6793054, essv6692562, essv6758930, essv6666620, essv6685993, essv6667711, essv6682648, essv6909867, essv6925478, essv6692561, essv6668791, essv6902327, essv6880294, essv6972044, essv6717953, essv6801426, essv6747646, essv6921498, essv6846818, essv6789376, essv6858897, essv6961166, essv6868536, essv6843668, essv6703642, essv6797229, essv6842520, essv6913772, essv6928882, essv6804279, essv6933070, essv6707110, essv6666618, essv6828812, essv6913770, essv6877531 | | Samples | SSM100, 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, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012 | | Known Genes | ADORA2A, 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 | | Method | Sequencing | | Analysis | Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads | | Platform | Illumina HiSeq 2000 | | Comments | | | Reference | Wong_et_al_2012b | | Pubmed ID | 23290073 | | Accession Number(s) | esv2724041
| | Frequency | | Sample Size | 96 | | Observed Gain | 0 | | Observed Loss | 91 | | Observed Complex | 0 | | Frequency | n/a |
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