A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2714895

Internal ID9949180
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93822806..93825723hg38UCSC Ensembl
Outerchr1:94288362..94291279hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669788, essv6968003, essv6843946, essv6906170, essv6961672, essv6877718, essv6703915, essv6868772, essv6933368, essv6807437, essv6880478, essv6722064, essv6825053, essv6725922, essv6707316, essv6750660, essv6669072, essv6797526, essv6871771, essv6759113, essv6756605, essv6718223, essv6937745, essv6805931, essv6917307, essv6769592, essv6682886, essv6764214, essv6933484, essv6773510, essv6804461, essv6941859, essv6736035, essv6686214, essv6697036, essv6950630, essv6710653, essv6733538, essv6777002, essv6914056, essv6946560, essv6917504, essv6886038, essv6780952, essv6829075, essv6714311, essv6883304, essv6847133, essv6747842, essv6853346, essv6874768, essv6817253, essv6745000, essv6925760, essv6816674, essv6729694, essv6821263, essv6859274, essv6889072, essv6832666, essv6801672, essv6785231, essv6753557, essv6921801, essv6813225, essv6898667, essv6692848, essv6738875, essv6742201, essv6679238, essv6910123, essv6766601, essv6789226, essv6810397, essv6699671, essv6895903, essv6864046, essv6689314
SamplesSSM010, SSM065, SSM022, SSM027, SSM092, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM016, SSM057, SSM001, SSM039, SSM024, SSM045, SSM067, SSM094, SSM050, SSM097, SSM041, SSM077, SSM005, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM075, SSM015, SSM014, SSM049, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesBCAR3
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2714895
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0

Hosted by The Centre for Applied Genomics
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