A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748779



Internal ID5059511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64130042..67062527hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6695860, essv6971140, essv6768722, essv6792148, essv6966270, essv6768726, essv6868309, essv6685344, essv6755795, essv6752770, essv6977755, essv6894910, essv6681855, essv6868298, essv6941296, essv6910396, essv6862730, essv6977754, essv6768725, essv6920500, essv6749885, essv6800530, essv6973450, essv6724762, essv6867519, essv6717085, essv6977756, essv6803693, essv6812429, essv6689155, essv6912890, essv6823925, essv6792146, essv6953533, essv6783853, essv6959759, essv6959765, essv6828005, essv6920495, essv6808265, essv6688506, essv6772349, essv6747062, essv6885270, essv6775967, essv6706460, essv6910407, essv6846173, essv6876886, essv6792150, essv6912888, essv6973472, essv6971141, essv6920501, essv6912889, essv6758427, essv6720974, essv6901591, essv6761167, essv6685345, essv6772348, essv6740431, essv6862727, essv6761164, essv6959761, essv6882540, essv6901590, essv6870934, essv6803692, essv6835144, essv6709739, essv6862728, essv6901593, essv6836809, essv6713249, essv6949378, essv6842727, essv6779730, essv6775966, essv6688504, essv6779735, essv6779732, essv6747061, essv6691846, essv6959757, essv6953531, essv6796314, essv6885269, essv6891519, essv6897848, essv6932165, essv6873887, essv6953534, essv6879682, essv6971138, essv6681853, essv6792149, essv6738096, essv6836798, essv6857660, essv6901594, essv6806597, essv6792147, essv6868342, essv6732420, essv6788064, essv6936448, essv6831590, essv6698957, essv6820051, essv6940636, essv6796316, essv6691845, essv6846172, essv6806600, essv6779731, essv6800529, essv6673638, essv6920499, essv6774720, essv6862729, essv6945271, essv6717083, essv6768723, essv6932163, essv6905168, essv6695862, essv6706461, essv6912891, essv6835145, essv6724764, essv6752771, essv6831594, essv6905167, essv6779734, essv6973461, essv6809607, essv6857662, essv6808287, essv6888224, essv6928164, essv6959764, essv6905169, essv6916380, essv6828004, essv6749883, essv6678104, essv6873889, essv6803691, essv6763557, essv6901592, essv6717084, essv6941318, essv6668358, essv6732422, essv6868287, essv6940638, essv6966271, essv6815702, essv6879681, essv6688505, essv6695861, essv6977758, essv6724763, essv6712765, essv6835141, essv6953530, essv6749884, essv6894912, essv6882543, essv6857661, essv6971137, essv6945270, essv6870933, essv6953528, essv6838891, essv6740442, essv6867518, essv6901589, essv6765938, essv6966272, essv6945266, essv6873888, essv6828006, essv6910418, essv6752769, essv6953532, essv6796315, essv6924624, essv6900836, essv6851660, essv6941329, essv6765936, essv6857663, essv6867520, essv6713247, essv6882541, essv6928165, essv6977757, essv6932164, essv6900837, essv6673639, essv6959760, essv6831593, essv6738095, essv6862726, essv6728592, essv6851659, essv6868320, essv6905166, essv6842725, essv6941307, essv6945268, essv6775968, essv6741328, essv6959758, essv6668357, essv6709738, essv6755794, essv6909150, essv6941285, essv6768724, essv6945267, essv6897850, essv6706462, essv6920497, essv6945269, essv6868331, essv6768720, essv6681852, essv6924625, essv6738097, essv6808298, essv6831591, essv6713248, essv6838890, essv6772350, essv6897849, essv6717082, essv6668356, essv6803690, essv6738598, essv6905170, essv6774742, essv6709737, essv6763556, essv6876884, essv6783855, essv6831592, essv6741329, essv6808276, essv6891518, essv6744226, essv6755796, essv6673640, essv6835143, essv6774731, essv6894911, essv6876885, essv6809606, essv6772351, essv6740420, essv6702745, essv6685342, essv6928166, essv6741327, essv6761166, essv6728593, essv6820052, essv6842726, essv6747063, essv6702744, essv6949377, essv6765937, essv6741330, essv6916379, essv6940639, essv6940637, essv6920498, essv6905171, essv6959763, essv6936447
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesAKAP5, C14orf50, CHURC1, CHURC1-FNTB, ESR2, FNTB, FUT8, GPHN, GPX2, HSPA2, LINC00238, LOC100506321, LOC645431, MAX, MIR4706, MIR4708, MTHFD1, PLEKHG3, RAB15, SGPP1, SPTB, SYNE2, TEX21P, ZBTB1, ZBTB25
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2748779
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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