A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718507



Internal ID9952798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157533583..157635387hg38UCSC Ensembl
Outerchr1:157503373..157605177hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38101805
hg19101805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917549, essv6969039, essv6742238, essv6877746, essv6747881, essv6968051, essv6793413, essv6756640, essv6847200, essv6669134, essv6689356, essv6697066, essv6725964, essv6718258, essv6954927, essv6941910, essv6816725, essv6898701, essv6889107, essv6729735, essv6871799, essv6906211, essv6864100, essv6686239, essv6797570, essv6821294, essv6703945, essv6785105, essv6669133, essv6699715, essv6859325, essv6829113, essv6738913, essv6675309, essv6937790, essv6859326, essv6753603, essv6877721, essv6707352, essv6844809, essv6686238, essv6696521, essv6929181, essv6722097, essv6972559, essv6906210, essv6868801, essv6972560, essv6756639, essv6917662, essv6780993, essv6892424, essv6710689, essv6807469, essv6961734, essv6679283, essv6902638, essv6886066, essv6840075, essv6816726, essv6880511, essv6906212, essv6864099, essv6725966, essv6853415
SamplesSSM100, SSM059, SSM036, SSM071, SSM027, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM093, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM068, SSM081, SSM040, SSM072, SSM020, SSM078, SSM053, SSM022, SSM091, SSM052, SSM098, SSM056, SSM012
Known GenesFCRL4, FCRL5
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)esv2718507
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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