A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714015



Internal ID9948299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15292092..18247911hg38UCSC Ensembl
Outerchr16:15385949..18341768hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382955820
hg192955820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862983, essv6857975, essv6913070, essv6842939, essv6831783, essv6696077, essv6891677, essv6913072, essv6885390, essv6691997, essv6732600, essv6966573, essv6788259, essv6942951, essv6699072, essv6763687, essv6839104, essv6828189, essv6691994, essv6916561, essv6784064, essv6975273, essv6897996, essv6812569, essv6960110, essv6940838, essv6928324, essv6846329, essv6835328, essv6857977, essv6975284, essv6750019, essv6846330, essv6857973, essv6949582, essv6949581, essv6792342, essv6895079, essv6758557, essv6913071, essv6900989, essv6828190, essv6796516, essv6792344, essv6690443, essv6706634, essv6706635, essv6741500, essv6812568, essv6905365, essv6871094, essv6842938, essv6761328, essv6920724, essv6699073, essv6916560, essv6721153, essv6750018, essv6815858, essv6772562, essv6678301, essv6755938, essv6877058, essv6779936, essv6815859, essv6776155, essv6960107, essv6888364, essv6724946, essv6846332, essv6741943, essv6901771, essv6673952, essv6971343, essv6940837, essv6877059, essv6776151, essv6779937, essv6788258, essv6949583, essv6870020, essv6709890, essv6936669, essv6966570, essv6691993, essv6678300, essv6960105, essv6945506, essv6924839, essv6690421, essv6717281, essv6839105, essv6809999, essv6867771, essv6691996, essv6945505, essv6851985, essv6776522, essv6741954, essv6717283, essv6971342, essv6744358, essv6911652, essv6831782, essv6732602, essv6696075, essv6874028, essv6772563, essv6953767, essv6796514, essv6713412, essv6831781, essv6784063, essv6960108, essv6877057, essv6905367, essv6702947, essv6665470, essv6842937, essv6796513, essv6702945, essv6690432, essv6900987, essv6945508, essv6891675, essv6932369, essv6800729, essv6741501, essv6738233, essv6888366, essv6831784, essv6905368, essv6901768, essv6851989, essv6752914, essv6761330, essv6960109, essv6761329, essv6758556, essv6741499, essv6897997, essv6673950, essv6975262, essv6665467, essv6920725, essv6867770, essv6800730, essv6763685, essv6784062, essv6665468, essv6800728, essv6776150, essv6728761, essv6924838, essv6728760, essv6713413, essv6920726, essv6905364, essv6835327, essv6717282, essv6788257, essv6874031, essv6721152, essv6867769, essv6665469, essv6846333, essv6835325, essv6874029, essv6741502, essv6932368, essv6905366, essv6788256, essv6953768, essv6901769, essv6691995, essv6820270, essv6936668, essv6732601, essv6851986, essv6668459, essv6702946, essv6776533, essv6936667, essv6776511, essv6901770, essv6776500, essv6966571, essv6806745, essv6895078, essv6870031, essv6796515, essv6768872, essv6682008, essv6870009, essv6744359, essv6940836, essv6885389, essv6835326, essv6913069, essv6803841, essv6776154, essv6709889, essv6851988, essv6673951, essv6857974
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, 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, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM030, SSM012
Known GenesABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR484, MIR6506, MIR6511A-2, MIR6770-2, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, NPIPA7, NPIPA8, PKD1P1, XYLT1
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)esv2714015
Frequency
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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