A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740650



Internal ID9974993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11533292..11563082hg38UCSC Ensembl
OuterchrY:13688968..13718758hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3829791
hg1929791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1330e201
Supporting Variantsessv6901325, essv6846660, essv6780687, essv6888725, essv6877385, essv6696604, essv6839572, essv6937219, essv6812897, essv6885721, essv6874371, essv6901326, essv6868319, essv6895500, essv6871417, essv6828647, essv6807089, essv6729250, essv6921245, essv6917039, essv6874370, essv6747501, essv6678789, essv6843446, essv6763952, essv6937215, essv6807088, essv6729251, essv6925281, essv6950108, essv6780434, essv6898319, essv6898313, essv6839574, essv6668674, essv6950105, essv6810089, essv6816249, essv6780665, essv6868317, essv6824584, essv6828649, essv6756261, essv6946985, essv6868314, essv6946996, essv6871416, essv6810087, essv6892041, essv6892046, essv6892040, essv6880164, essv6807086, essv6713867, essv6863517, essv6839573, essv6747500, essv6801239, essv6812896, essv6901328, essv6729252, essv6925280, essv6895498, essv6843450, essv6685856, essv6816252, essv6832215, essv6812899, essv6967350, essv6812895, essv6832218, essv6883001, essv6888720, essv6696603, essv6678787, essv6696608, essv6685858, essv6832220, essv6871415, essv6678784, essv6925277, essv6674686, essv6874373, essv6807095, essv6892036, essv6824582, essv6832219, essv6898317, essv6846657, essv6901322, essv6674689, essv6950107, essv6828650, essv6674688, essv6871412, essv6820785, essv6810093, essv6744668, essv6898314, essv6888726, essv6744667, essv6696607, essv6810086, essv6713866, essv6880163, essv6883003, essv6843448, essv6843449, essv6888724, essv6868318, essv6816251, essv6846655, essv6780433, essv6863518, essv6816254, essv6801240, essv6816255, essv6883002, essv6921247, essv6801242, essv6888723, essv6756260, essv6967349, essv6917042, essv6828651, essv6877384, essv6871419, essv6871413, essv6696602, essv6883004, essv6925282, essv6895501, essv6846658, essv6863519, essv6871418, essv6824583, essv6917037, essv6801241, essv6835790, essv6846659, essv6780431, essv6885719, essv6892045, essv6820784, essv6868316, essv6885713, essv6685857, essv6678790, essv6874372, essv6780676, essv6868315, essv6892042, essv6863516, essv6898318, essv6839568, essv6880162, essv6729247, essv6835797, essv6901327
SamplesSSM100, SSM008, SSM083, SSM027, SSM024, SSM075, SSM046, SSM079, SSM097, SSM093, SSM074, SSM042, SSM088, SSM058, SSM092, SSM084, SSM090, SSM021, SSM018, SSM096, SSM062, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM085, SSM081, SSM072, SSM082, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM034, SSM099, SSM098, SSM030
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)esv2740650
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer