A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740649



Internal ID9974992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11532304..11538810hg38UCSC Ensembl
OuterchrY:13687980..13694486hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg386507
hg196507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1329e201
Supporting Variantsessv6901325, essv6807083, essv6877385, essv6839572, essv6937219, essv6835789, essv6780428, essv6729249, essv6756256, essv6729250, essv6921245, essv6917039, essv6874370, essv6843445, essv6895497, essv6846652, essv6898313, essv6747498, essv6950105, essv6674684, essv6810089, essv6868317, essv6828649, essv6756261, essv6946985, essv6868314, essv6892041, essv6828645, essv6807086, essv6888721, essv6747500, essv6801239, essv6812896, essv6883005, essv6810084, essv6839567, essv6921246, essv6925280, essv6880160, essv6895498, essv6892039, essv6885711, essv6895495, essv6685856, essv6967350, essv6678785, essv6685860, essv6832218, essv6883001, essv6678787, essv6696608, essv6967347, essv6871415, essv6674686, essv6898311, essv6824582, essv6812894, essv6738550, essv6846657, essv6868310, essv6892035, essv6883006, essv6780599, essv6744668, essv6901320, essv6810086, essv6713866, essv6877381, essv6843449, essv6877382, essv6816251, essv6780433, essv6801240, essv6839569, essv6820783, essv6839577, essv6888723, essv6967349, essv6863514, essv6874367, essv6696602, essv6807085, essv6846658, essv6835790, essv6917038, essv6885713, essv6937213, essv6780676, essv6863516, essv6937216, essv6880162, essv6678782
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM050, SSM074, SSM042, SSM088, SSM058, SSM092, SSM084, SSM090, SSM021, SSM018, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM034, SSM099, SSM098
Known Genes
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)esv2740649
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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