Variant DetailsVariant: esv2720404 | Internal ID | 9954700 | | Landmark | | | Location Information | | | Cytoband | 2q11.1 | | Allele length | | Assembly | Allele length | | hg38 | 1634217 | | hg19 | 1584932 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv607e201 | | Supporting Variants | essv6886237, essv6972975, essv6729957, essv6821520, essv6902853, essv6748045, essv6726190, essv6726191, essv6671854, essv6922105, essv6910413, essv6883506, essv6710924, essv6689588, essv6756780, essv6844175, essv6762047, essv6736241, essv6787489, essv6675542, essv6762045, essv6933678, essv6721410, essv6756781, essv6777280, essv6829322, essv6722328, essv6750868, essv6910412, essv6759315, essv6739119, essv6836527, essv6950912, essv6946837, essv6829321, 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, essv6962096, essv6892637, essv6756784, essv6683122, essv6787453, essv6704161, essv6898879, essv6846876, essv6797825, essv6822154, essv6825353, essv6769872, essv6883505, essv6816979, essv6733716, essv6810581, essv6793670, essv6787500, essv6777279, essv6938037, essv6686440, essv6917788, essv6819276, essv6787511, essv6736244, essv6822043, essv6721421, essv6942201, essv6847568, essv6972974, essv6889300, essv6751697, essv6697898, essv6686441, essv6847569, essv6807635, essv6933677, essv6718496, essv6879798, essv6844179, essv6759317, essv6773772, essv6756783, essv6787475, essv6671843, essv6773771, essv6785373, essv6729958, essv6919740, essv6942202, essv6914272, essv6864383, essv6762048, essv6919762, essv6697235, essv6778598, essv6925992, essv6864382, essv6816981, essv6704162, essv6753771, essv6938039, essv6914273, essv6896091, essv6721432, essv6968333, essv6764397, essv6933676, essv6697887, essv6759316, essv6753770, essv6892638, essv6686442, essv6667078, essv6914275, essv6751675, essv6955344, essv6750869, essv6797827, essv6699997, essv6938038, essv6906449, essv6832907, essv6669524, essv6801880, essv6675544, essv6671865, essv6683123, essv6807636, essv6953017, essv6718497, essv6880669, essv6825355, essv6742410, essv6751709, essv6669525, essv6853757, essv6972976, essv6910414, essv6769873, essv6764396, essv6736243, essv6853756, essv6779709, essv6853755, essv6785374, essv6707570, essv6721399, essv6697234, essv6697909, essv6693162, essv6859584, essv6929457, essv6751664, essv6781931, essv6748044, essv6962098, essv6742408, essv6762046, essv6697233, essv6879787, essv6871983, essv6840323, essv6832906, essv6693163, essv6972972, essv6756782, 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 | | 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, 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, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012 | | Known Genes | ADRA2B, 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 | | 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) | esv2720404
| | Frequency | | Sample Size | 96 | | Observed Gain | 0 | | Observed Loss | 95 | | Observed Complex | 0 | | Frequency | n/a |
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