A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722209



Internal ID10305845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14591174..14593323hg38UCSC Ensembl
Outerchr20:14571820..14573969hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769175, essv6874308, essv6699325, essv6721557, essv6688978, essv6868226, essv6932832, essv6801176, essv6916957, essv6895440, essv6792795, essv6858554, essv6813121, essv6685795, essv6888682, essv6665633, essv6913514, essv6873453, essv6703398, essv6941295, essv6901280, essv6693077, essv6863433, essv6725380, essv6763912, essv6678718, essv6921157, essv6909688, essv6772597, essv6741794, essv6706903, essv6950024, essv6954199, essv6925195, essv6835720, essv6828576, essv6747451, essv6882950, essv6877330, essv6788683, essv6729169, essv6750284, essv6902108, essv6891989, essv6784506, essv6852604, essv6804135, essv6745065, essv6758794, essv6766258, essv6913963, essv6713795, essv6780021, essv6807026, essv6960779, essv6810038, essv6733030, essv6666211, essv6839503, essv6945982, essv6898261, essv6738499, essv6824512, essv6937135, essv6756215, essv6812844, essv6796967, essv6682417, essv6846597, essv6843374, essv6780355, essv6971770, essv6928678, essv6717703, essv6735734, essv6744616, essv6946196, essv6880112, essv6816195, essv6692345, essv6885658, essv6776538, essv6710228, essv6871363, essv6832156, essv6753199, essv6674582
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesMACROD2, MACROD2-IT1
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)esv2722209
Frequency
Sample Size96
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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