A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721040



Internal ID10304676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196794408..196942973hg38UCSC Ensembl
Outerchr1:196763538..196912103hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38148566
hg19148566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e201
Supporting Variantsessv6785887, essv6692926, essv6785138, essv6917952, essv6847254, essv6874826, essv6902670, essv6742262, essv6898731, essv6699757, essv6682951, essv6892457, essv6718290, essv6703981, essv6738951, essv6789301, essv6718291, essv6699758, essv6836322, essv6883362, essv6871828, essv6689387, essv6714389, essv6845142, essv6729762, essv6878031, essv6816768, essv6764271, essv6898732, essv6951507, essv6880539, essv6769665, essv6929210, essv6703980, essv6864140, essv6669191, essv6847252, essv6871827, essv6801740, essv6793448, essv6738952, essv6789300, essv6785139, essv6941957, essv6917963, essv6747906, essv6951496, essv6859363, essv6954978, essv6747905, essv6710725, essv6868834, essv6801739, essv6925821, essv6777070, essv6914111, essv6910197, essv6902671, essv6840102, essv6832719, essv6892456, essv6742263, essv6692927, essv6697093, essv6941956, essv6886093, essv6821324, essv6868835, essv6797605, essv6675347, essv6883363, essv6703982, essv6745059, essv6670343, essv6910195, essv6719887, essv6749854, essv6679317, essv6810449, essv6917582, essv6810709
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM011, SSM079, SSM065, SSM038, SSM039, SSM013, SSM009, SSM073, SSM042, SSM088, SSM002, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM076, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM043, SSM052, SSM098, SSM056, SSM063, SSM012
Known GenesCFHR1, CFHR4
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)esv2721040
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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