A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2714015

Internal ID9948299
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15292092..18247911hg38UCSC Ensembl
Outerchr16:15385949..18341768hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779936, essv6691997, essv6784062, essv6895079, essv6940837, essv6928324, essv6713413, essv6971342, essv6772562, essv6924838, essv6966573, essv6877059, essv6699073, essv6900987, essv6724946, essv6738233, essv6835328, essv6776155, essv6788258, essv6752914, essv6842939, essv6842938, essv6665469, essv6702947, essv6901770, essv6966571, essv6784064, essv6761329, essv6901768, essv6835327, essv6665468, essv6776511, essv6796514, essv6857973, essv6690443, essv6717283, essv6741502, essv6953768, essv6851986, essv6888364, essv6945506, essv6772563, essv6792342, essv6763687, essv6820270, essv6960110, essv6831783, essv6846330, essv6945505, essv6763685, essv6706634, essv6768872, essv6920726, essv6673951, essv6932368, essv6741501, essv6846332, essv6699072, essv6796513, essv6831782, essv6803841, essv6776150, essv6913071, essv6776533, essv6905368, essv6916561, essv6949581, essv6776151, essv6800728, essv6867770, essv6905364, essv6678301, essv6851988, essv6691993, essv6812568, essv6871094, essv6728760, essv6761330, essv6732600, essv6966570, essv6721153, essv6792344, essv6960105, essv6741499, essv6800729, essv6796516, essv6846329, essv6905367, essv6835326, essv6862983, essv6741500, essv6744358, essv6857975, essv6895078, essv6924839, essv6755938, essv6839105, essv6702945, essv6975273, essv6761328, essv6885390, essv6945508, essv6874029, essv6779937, essv6857977, essv6713412, essv6936667, essv6913072, essv6691994, essv6936669, essv6806745, essv6916560, essv6960107, essv6750019, essv6709890, essv6874028, essv6673952, essv6728761, essv6758557, essv6870009, essv6960109, essv6717282, essv6788257, essv6940838, essv6668459, essv6905366, essv6812569, essv6842937, essv6932369, essv6796515, essv6891675, essv6665470, essv6828190, essv6949583, essv6975284, essv6911652, essv6877057, essv6835325, essv6975262, essv6905365, essv6732601, essv6942951, essv6936668, essv6913070, essv6901769, essv6732602, essv6741943, essv6885389, essv6920724, essv6776154, essv6776522, essv6846333, essv6690421, essv6691996, essv6696077, essv6867769, essv6788256, essv6891677, essv6741954, essv6857974, essv6800730, essv6750018, essv6665467, essv6870020, essv6690432, essv6691995, essv6897996, essv6888366, essv6953767, essv6758556, essv6696075, essv6949582, essv6682008, essv6702946, essv6870031, essv6709889, essv6971343, essv6815859, essv6828189, essv6784063, essv6920725, essv6831781, essv6831784, essv6901771, essv6867771, essv6960108, essv6717281, essv6744359, essv6776500, essv6706635, essv6809999, essv6877058, essv6897997, essv6913069, essv6673950, essv6839104, essv6900989, essv6678300, essv6851989, essv6721152, essv6851985, essv6940836, essv6788259, essv6874031, essv6815858
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM032, SSM039, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2714015
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0

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