A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714895



Internal ID9949180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93822806..93825723hg38UCSC Ensembl
Outerchr1:94288362..94291279hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382918
hg192918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773510, essv6759113, essv6679238, essv6933484, essv6810397, essv6725922, essv6764214, essv6829075, essv6883304, essv6789226, essv6785231, essv6877718, essv6718223, essv6843946, essv6880478, essv6821263, essv6710653, essv6895903, essv6921801, essv6816674, essv6910123, essv6756605, essv6689314, essv6801672, essv6753557, essv6859274, essv6937745, essv6722064, essv6807437, essv6847133, essv6699671, essv6832666, essv6946560, essv6733538, essv6682886, essv6898667, essv6950630, essv6933368, essv6961672, essv6797526, essv6745000, essv6868772, essv6697036, essv6669788, essv6729694, essv6925760, essv6750660, essv6968003, essv6686214, essv6871771, essv6736035, essv6941859, essv6874768, essv6853346, essv6804461, essv6703915, essv6738875, essv6769592, essv6742201, essv6805931, essv6886038, essv6917307, essv6817253, essv6692848, essv6864046, essv6889072, essv6906170, essv6669072, essv6747842, essv6917504, essv6777002, essv6780952, essv6914056, essv6813225, essv6825053, essv6714311, essv6707316, essv6766601
SamplesSSM100, SSM059, SSM036, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM061, SSM096, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM049, SSM056, SSM063
Known GenesBCAR3
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)esv2714895
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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