A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722959



Internal ID9957259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63715664..63806918hg38UCSC Ensembl
Outerchr20:62347016..62438271hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3891255
hg1991256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753248, essv6769217, essv6788760, essv6738547, essv6706968, essv6725446, essv6835785, essv6874366, essv6882999, essv6913598, essv6967344, essv6932894, essv6950099, essv6699367, essv6810083, essv6846651, essv6696593, essv6874365, essv6758834, essv6901319, essv6941370, essv6905779, essv6914263, essv6758835, essv6960893, essv6925266, essv6813654, essv6666110, essv6902178, essv6721634, essv6750337, essv6769218, essv6925267, essv6843435, essv6932893, essv6777488, essv6780424, essv6692393, essv6863512, essv6902173, essv6835784, essv6780576, essv6773062, essv6921238, essv6741844, essv6689013, essv6937212, essv6928738, essv6682482, essv6921235, essv6696594, essv6946874, essv6744659, essv6797045, essv6877380, essv6954286, essv6880158, essv6828641, essv6780425, essv6788759, essv6824574, essv6792867, essv6917027, essv6744660, essv6898310, essv6733104, essv6780587, essv6813676, essv6797046, essv6843436, essv6868307, essv6898308, essv6941371, essv6777376, essv6813665, essv6937211, essv6692394, essv6880159, essv6685853, essv6841209, essv6810082, essv6967345, essv6678780, essv6741841, essv6820781, essv6950098, essv6735773, essv6895490, essv6960894, essv6773063, essv6807081, essv6971853, essv6733105, essv6729237, essv6784581, essv6909741, essv6716532, essv6921237, essv6843434, essv6852716, essv6913600, essv6902176, essv6807080, essv6682484, essv6921236, essv6745565, essv6717766, essv6750336, essv6761618, essv6954283, essv6946863, essv6883000, essv6682481, essv6871405, essv6846650, essv6877379, essv6706967, essv6741843, essv6954285, essv6780423, essv6905780, essv6892030, essv6804184, essv6960892, essv6713861, essv6725447, essv6784580, essv6839563, essv6839565, essv6871406, essv6852715, essv6917028, essv6756255, essv6801230, essv6832211, essv6682483, essv6713860, essv6693576, essv6946064, essv6914274, essv6674678, essv6692392, essv6828644, essv6678781, essv6747497, essv6885707, essv6909739, essv6832212, essv6873897, essv6885710, essv6666132, essv6666326, essv6674677, essv6892031, essv6717768, essv6917026, essv6824575, essv6710295, essv6729239, essv6666325, essv6841198, essv6846649, essv6666143, essv6689014, essv6902175, essv6946852, essv6877378, essv6710294, essv6733103, essv6668673, essv6858660, essv6703471, essv6750338, essv6761619, essv6733102, essv6753247, essv6729236, essv6888716, essv6937210, essv6717767, essv6928737, essv6925268, essv6895491, essv6738548, essv6804183, essv6816245, essv6696595, essv6902177, essv6946062, essv6699366, essv6666121, essv6729238, essv6828642, essv6863513, essv6913599
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, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesLIME1, SLC2A4RG, ZBTB46, ZGPAT
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)esv2722959
Frequency
Sample Size96
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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