A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716009



Internal ID10299645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47172052..47189088hg38UCSC Ensembl
Outerchr17:45249418..45266454hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3817037
hg1917037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885535, essv6944550, essv6920957, essv6846482, essv6928516, essv6691798, essv6738373, essv6895269, essv6868008, essv6784302, essv6800973, essv6812713, essv6871875, essv6688843, essv6960444, essv6966927, essv6713609, essv6747315, essv6776360, essv6732844, essv6678514, essv6925008, essv6780144, essv6901129, essv6761450, essv6828383, essv6703173, essv6905561, essv6744481, essv6753049, essv6699193, essv6874170, essv6721364, essv6839664, essv6763816, essv6839326, essv6788485, essv6816035, essv6901950, essv6877197, essv6685639, essv6811510, essv6717520, essv6710057, essv6941090, essv6831972, essv6743698, essv6912741, essv6916783, essv6778177, essv6769032, essv6945738, essv6728981, essv6835541, essv6971574, essv6803986, essv6809898, essv6858277, essv6976862, essv6824312, essv6863201, essv6871232, essv6735612, essv6725179, essv6758678, essv6843180, essv6879973, essv6932625, essv6891837, essv6756069, essv6888555, essv6852286, essv6949813, essv6806889, essv6792575, essv6750135, essv6772778, essv6898129, essv6766159, essv6909514, essv6820471, essv6882816, essv6762375, essv6715198, essv6674276, essv6741637, essv6696294, essv6913315, essv6692176, essv6796753
SamplesSSM100, 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, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesCDC27
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)esv2716009
Frequency
Sample Size96
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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