A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723638



Internal ID9957938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44249174..44593709hg38UCSC Ensembl
Outerchr21:45669057..46013590hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38344536
hg19344534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892247, essv6816511, essv6780771, essv6735948, essv6821106, essv6828927, essv6846915, essv6692681, essv6666839, essv6921643, essv6843817, essv6868664, essv6756506, essv6950457, essv6937590, essv6921645, essv6972219, essv6892249, essv6876175, essv6668755, essv6718080, essv6801558, essv6699539, essv6928990, essv6853124, essv6921641, essv6776847, essv6946413, essv6901549, essv6703779, essv6941700, essv6759003, essv6742092, essv6925616, essv6967820, essv6816513, essv6682775, essv6941702, essv6721917, essv6784009, essv6836096, essv6917348, essv6898556, essv6666843, essv6682773, essv6946410, essv6921639, essv6950459, essv6836094, essv6921644, essv6747734, essv6967821, essv6675122, essv6961399, essv6742095, essv6868661, essv6773363, essv6954614, essv6868660, essv6921646, essv6744897, essv6933223, essv6756505, essv6937588, essv6824894, essv6832505, essv6789047, essv6972218, essv6928989, essv6666840, essv6937587, essv6801556, essv6874652, essv6913921, essv6682772, essv6877628, essv6898557, essv6813113, essv6668856, essv6773366, essv6928988, essv6933222, essv6675126, essv6696942, essv6696940, essv6797362, essv6885934, essv6789048, essv6895788, essv6843818, essv6666842, essv6703777, essv6798153, essv6753452, essv6725758, essv6916251, essv6961394, essv6707215, essv6766493, essv6733429, essv6892248, essv6804356, essv6961392, essv6909980, essv6714157, essv6972220, essv6666837, essv6773362, essv6742094, essv6714160, essv6750555, essv6828926, essv6868662, essv6883207, essv6733430, essv6853127, essv6733434, essv6766494, essv6776846, essv6710523, essv6954617, essv6679074, essv6949651, essv6961395, essv6946411, essv6798264, essv6863863, essv6764133, essv6682774, essv6710519, essv6868666, essv6888948, essv6853126, essv6950458, essv6789046, essv6880382, essv6843819, essv6747832, essv6913923, essv6933225, essv6675124, essv6863860, essv6679073, essv6816242, essv6738759, essv6718475, essv6718081, essv6961397, essv6832507, essv6729537, essv6675121, essv6783998, essv6780773, essv6793205, essv6871665, essv6721916, essv6967819, essv6913922, essv6941701, essv6733431, essv6707214, essv6853125, essv6949640, essv6868663, essv6954616, essv6816253, essv6710520, essv6810296, essv6807325, essv6699541, essv6946406, essv6707216, essv6801557, essv6780772, essv6871666, essv6761818, essv6686104, essv6937591, essv6967823, essv6913924, essv6784905, essv6666838, essv6928991, essv6797361, essv6816265, essv6937589, essv6686103, essv6668857, essv6937586, essv6843823, essv6941698, essv6801559, essv6733428, essv6925615, essv6921642, essv6839885, essv6718082, essv6696941, essv6961398, essv6946412, essv6901550, essv6902456, essv6807326, essv6793204, essv6877627, essv6682770, essv6906053, essv6824893, essv6679075, essv6895786, essv6836095, essv6832506, essv6917347, essv6876186, essv6846914, essv6933224, essv6883206, essv6898558, essv6961393, essv6874654, essv6742093, essv6784904, essv6895785, essv6703778, essv6729538, essv6714159, essv6666841, essv6761817, essv6967822, essv6773365, essv6738760, essv6733433, essv6859097, essv6824892, essv6703775, essv6784903, essv6950456, essv6941699, essv6714158, essv6668766, essv6902455, essv6853123, essv6954615, essv6868667, essv6675123, essv6735947, essv6921647, essv6836092, essv6718079, essv6816512, essv6836093, essv6699540, essv6710524, essv6863862, essv6946408, essv6821105, essv6797360, essv6839884, essv6843822, essv6839883, essv6744899, essv6946409, essv6718078, essv6692680, essv6710522, essv6888949, essv6682771, essv6863861, essv6832508, essv6839886, essv6888947, essv6675125
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, 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, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesAIRE, C21orf2, C21orf90, DNMT3L, KRTAP10-1, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, LRRC3, LRRC3-AS1, PFKL, TRPM2, TSPEAR, TSPEAR-AS1
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)esv2723638
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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