Variant DetailsVariant: esv2740175 | Internal ID | 9974517 | | Landmark | | | Location Information | | | Cytoband | Xp11.21 | | Allele length | | Assembly | Allele length | | hg38 | 2789608 | | hg19 | 2787012 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv6935261, essv6923566, essv6855978, essv6674820, essv6881795, essv6690934, essv6904209, essv6849934, essv6881794, essv6757730, essv6687683, essv6908112, essv6732532, essv6694742, essv6829598, essv6671888, essv6861468, essv6861465, essv6690935, essv6749119, essv6890642, essv6855979, essv6671885, essv6791058, essv6939543, essv6822905, essv6694740, essv6890641, essv6771326, essv6682332, essv6719933, essv6931003, essv6892399, essv6965361, essv6677053, essv6903741, essv6834242, essv6757729, essv6760413, essv6911837, essv6873157, essv6805833, essv6786955, essv6765318, essv6876115, essv6690936, essv6712335, essv6760414, essv6884591, essv6948332, essv6667840, essv6964557, essv6964555, essv6944026, essv6915514, essv6927279, essv6802942, essv6765317, essv6765310, essv6818800, essv6952437, essv6786953, essv6727614, essv6845383, essv6893995, essv6884592, essv6830654, essv6746291, essv6680890, essv6698244, essv6684433, essv6795186, essv6731366, essv6923567, essv6775044, essv6767929, essv6782744, essv6754944, essv6705522, essv6834244, essv6771327, essv6706832, essv6965350, essv6701619, essv6964556, essv6849938, essv6795188, essv6732543, essv6903730, essv6671886, essv6775043, essv6900089, essv6719934, essv6876114, essv6799418, essv6740407, essv6751986, essv6826923, essv6775040, essv6716032, essv6932829, essv6927278, essv6837926, essv6799665, essv6712337, essv6975703, essv6687684, essv6849936, essv6957867, essv6814772, essv6808801, essv6671884, essv6826922, essv6826921, essv6811695, essv6805831, essv6682343, essv6682321, essv6859531, essv6701620, essv6778731, essv6734691, essv6866208, essv6834245, essv6841738, essv6808802, essv6975709, essv6919399, essv6762934, essv6861467, essv6932840, essv6778730, essv6969939, essv6897117, essv6740406, essv6698243, essv6694741, essv6948333, essv6677052, essv6746290, essv6708862, essv6861466, essv6957871, essv6743498, essv6919398, essv6799419, essv6870174, essv6944027, essv6855977, essv6712336, essv6887411, essv6957868, essv6680892, essv6866207, essv6743497, essv6849935, essv6751988, essv6799417, essv6719935, essv6680891, essv6671883, essv6975708, essv6767930, essv6904210, essv6799676, essv6731365, essv6878972, essv6723759, essv6957870, essv6671889, essv6969941, essv6802944, essv6911838, essv6667839, essv6845384, essv6964554, essv6855980, essv6706821, essv6911839, essv6765321, essv6866211, essv6818801, essv6740408, essv6737338, essv6732554, essv6866210, essv6708861, essv6939544, essv6908111, essv6808803, essv6975704, essv6723760, essv6931004, essv6791059, essv6818799, essv6957869, essv6849937, essv6687682 | | 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, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012 | | Known Genes | ALAS2, APEX2, FAM104B, FAM120C, FAM156A, FAM156B, FGD1, FOXR2, GNL3L, GPR173, HSD17B10, HUWE1, IQSEC2, ITIH6, KDM5C, MAGED2, MAGEH1, MIR4536-1, MIR6857, MIR6894, MIR6895, MIR98, MIRLET7F2, MTRNR2L10, PAGE2, PAGE2B, PAGE3, PAGE5, PFKFB1, PHF8, RIBC1, SMC1A, SNORA11, TRO, TSPYL2, TSR2, USP51, WNK3, XAGE3 | | 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) | esv2740175
| | Frequency | | Sample Size | 96 | | Observed Gain | 0 | | Observed Loss | 96 | | Observed Complex | 0 | | Frequency | n/a |
|
|
