A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720008



Internal ID9954304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45414494..45415534hg38UCSC Ensembl
Outerchr2:45641633..45642673hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733693, essv6910371, essv6667058, essv6801842, essv6853685, essv6914234, essv6933637, essv6847496, essv6764368, essv6925958, essv6955270, essv6748014, essv6952740, essv6777239, essv6769844, essv6972892, essv6818954, essv6762022, essv6819597, essv6844132, essv6750828, essv6697665, essv6871949, essv6751287, essv6929409, essv6754153, essv6859528, essv6756755, essv6669460, essv6816930, essv6917747, essv6773735, essv6759290, essv6753741, essv6962030, essv6840278, essv6874949, essv6721055, essv6922055, essv6864325, essv6883470, essv6879431, essv6919418, essv6950867, essv6742379, essv6722294, essv6679477
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM053, SSM086, SSM006, SSM091, SSM033, SSM084, SSM061, SSM078, SSM088, SSM089, SSM031, SSM025, SSM020, SSM016, SSM057, SSM001, SSM045, SSM067, SSM062, SSM012, SSM056, SSM085, SSM017, SSM066, SSM029, SSM003, SSM095, SSM030, SSM073, SSM021, SSM002, SSM063, SSM087, SSM019, SSM004, SSM015, SSM026, SSM049, SSM008, SSM018, SSM058, SSM059
Known GenesSRBD1
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)esv2720008
Frequency
Sample Size96
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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