A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719645



Internal ID10303281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10312080..10312544hg38UCSC Ensembl
Outerchr2:10452206..10452670hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587e201
Supporting Variantsessv6955205, essv6704094, essv6693081, essv6864285, essv6707513, essv6877850, essv6853637, essv6789463, essv6955204, essv6871920, essv6785291, essv6825273, essv6718429, essv6781163, essv6793593, essv6961982, essv6919107, essv6699906, essv6813409, essv6726108, essv6699905, essv6807579, essv6679450, essv6810531, essv6689505, essv6720822, essv6675467, essv6729890, essv6902787, essv6722268, essv6898816, essv6821450, essv6801824, essv6929369, essv6722269, essv6669393, essv6886189, essv6952451, essv6840247, essv6686378, essv6801823, essv6821449, essv6785290, essv6910335, essv6729891, essv6859496, essv6671321, essv6919096, essv6718428, essv6710847, essv6892572, essv6693080, essv6777206, essv6829247, essv6925934
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM045, SSM046, SSM079, SSM087, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM084, SSM047, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM033, SSM068, SSM081, SSM040, SSM020, SSM007, SSM015, SSM005, SSM080, SSM037, SSM077, SSM076, SSM091, SSM070, SSM004, SSM098
Known GenesHPCAL1
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)esv2719645
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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