A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730921



Internal ID9965238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151410030..151413192hg38UCSC Ensembl
Outerchr5:150789591..150792753hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383163
hg193163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762517, essv6748618, essv6751465, essv6754396, essv6667463, essv6723089, essv6934547, essv6822314, essv6865409, essv6873375, essv6826239, essv6956746, essv6805293, essv6899572, essv6687125, essv6926863, essv6748619, essv6811185, essv6730741, essv6918598, essv6690292, essv6727331, essv6855001, essv6811184, essv6793610, essv6822313, essv6786240, essv6759895, essv6723090, essv6837288, essv6844779, essv6739845, essv6959362, essv6676407, essv6786241, essv6782046, essv6841096, essv6759087, essv6745829, essv6875569, essv6677254, essv6680259, essv6896655, essv6848889, essv6833642, essv6808280, essv6869577, essv6694004, essv6739846, essv6764891, essv6759098, essv6940928, essv6704864, essv6670908, essv6926874, essv6751466, essv6794507, essv6770640, essv6711702, essv6890068, essv6798690, essv6956747, essv6922913, essv6865408, essv6736851, essv6886899, essv6860634, essv6757282, essv6690293, essv6793621, essv6974515, essv6884091, essv6818016
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM075, SSM045, SSM079, SSM065, SSM087, SSM097, SSM009, SSM050, SSM074, SSM042, SSM088, SSM002, SSM057, SSM058, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM032, SSM003, SSM031, SSM001, SSM086, SSM033, SSM085, SSM068, SSM040, SSM072, SSM082, SSM007, SSM078, SSM005, SSM080, SSM037, SSM076, SSM055, SSM095, SSM004, SSM099, SSM052, SSM056, SSM030, SSM063
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)esv2730921
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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