A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748779



Internal ID9983063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63663324..66595809hg38UCSC Ensembl
Outerchr14:64130042..67062527hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382932486
hg192932486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695860, essv6971140, essv6792148, essv6768722, essv6966270, essv6768726, essv6868309, essv6685344, essv6755795, essv6752770, essv6681855, essv6977755, essv6894910, essv6868298, essv6941296, essv6862730, essv6910396, essv6977754, essv6920500, essv6768725, essv6749885, essv6800530, essv6973450, essv6724762, essv6867519, essv6717085, essv6812429, essv6803693, essv6977756, essv6689155, essv6792146, essv6823925, essv6912890, essv6953533, essv6783853, essv6959759, essv6959765, essv6828005, essv6920495, essv6688506, essv6808265, essv6772349, essv6747062, essv6885270, essv6775967, essv6706460, essv6910407, essv6846173, essv6876886, essv6792150, essv6920501, essv6912888, essv6973472, essv6971141, essv6912889, essv6758427, essv6720974, essv6901591, essv6761167, essv6740431, essv6862727, essv6772348, essv6761164, essv6685345, essv6959761, essv6882540, essv6901590, essv6870934, essv6803692, essv6835144, essv6862728, essv6709739, essv6901593, essv6836809, essv6713249, essv6842727, essv6949378, essv6779730, essv6779735, essv6779732, essv6747061, essv6775966, essv6688504, essv6691846, essv6953531, essv6796314, essv6959757, essv6891519, essv6897848, essv6885269, essv6932165, essv6873887, essv6953534, essv6879682, essv6681853, essv6971138, essv6792149, essv6738096, essv6836798, essv6857660, essv6901594, essv6806597, essv6792147, essv6868342, essv6732420, essv6788064, essv6831590, essv6698957, essv6936448, essv6820051, essv6940636, essv6796316, essv6691845, essv6846172, essv6806600, essv6779731, essv6800529, essv6920499, essv6673638, essv6774720, essv6945271, essv6862729, essv6717083, essv6932163, essv6768723, essv6905168, essv6695862, essv6835145, essv6912891, essv6706461, essv6724764, essv6752771, essv6831594, essv6905167, essv6779734, essv6973461, essv6809607, essv6857662, essv6808287, essv6888224, essv6928164, essv6959764, essv6905169, essv6916380, essv6828004, essv6749883, essv6678104, essv6873889, essv6803691, essv6763557, essv6901592, essv6941318, essv6717084, essv6668358, essv6732422, essv6868287, essv6815702, essv6940638, essv6966271, essv6879681, essv6688505, essv6695861, essv6977758, essv6724763, essv6835141, essv6712765, essv6953530, essv6749884, essv6882543, essv6894912, essv6857661, essv6971137, essv6945270, essv6953528, essv6870933, essv6740442, essv6838891, essv6765938, essv6901589, essv6867518, essv6966272, essv6945266, essv6873888, essv6828006, essv6910418, essv6953532, essv6752769, essv6796315, essv6924624, essv6900836, essv6851660, essv6941329, essv6765936, essv6867520, essv6713247, essv6857663, essv6882541, essv6928165, essv6977757, essv6900837, essv6932164, essv6673639, essv6959760, essv6831593, essv6738095, essv6862726, essv6728592, essv6851659, essv6905166, essv6868320, essv6842725, essv6941307, essv6945268, essv6775968, essv6959758, essv6741328, essv6668357, essv6709738, essv6755794, essv6909150, essv6941285, essv6768724, essv6945267, essv6897850, essv6706462, essv6920497, essv6945269, essv6868331, essv6681852, essv6768720, essv6738097, essv6808298, essv6924625, essv6831591, essv6713248, essv6838890, essv6772350, essv6897849, essv6668356, essv6717082, essv6803690, essv6738598, essv6905170, essv6774742, essv6709737, essv6763556, essv6876884, essv6783855, essv6831592, essv6891518, essv6741329, essv6808276, essv6744226, essv6673640, essv6755796, essv6835143, essv6774731, essv6894911, essv6876885, essv6809606, essv6772351, essv6702745, essv6740420, essv6685342, essv6928166, essv6728593, essv6741327, essv6761166, essv6842726, essv6820052, essv6747063, essv6702744, essv6765937, essv6949377, essv6741330, essv6916379, essv6940639, essv6940637, essv6920498, essv6959763, essv6905171, 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, CHURC1, CHURC1-FNTB, ESR2, FNTB, FUT8, FUT8-AS1, GPHN, GPX2, HSPA2, LINC00238, LOC100128233, LOC100506321, MAX, MIR4706, MIR4708, MIR548AZ, MIR7855, MTHFD1, PLEKHG3, PPP1R36, RAB15, SGPP1, SPTB, SYNE2, TEX21P, ZBTB1, ZBTB25
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)esv2748779
Frequency
Sample Size96
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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