A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719647



Internal ID10303283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10312182..10312630hg38UCSC Ensembl
Outerchr2:10452308..10452756hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587e201
Supporting Variantsessv6955205, essv6693081, essv6864285, essv6707513, essv6877850, essv6853637, essv6789463, essv6955204, essv6785291, essv6825273, essv6718429, essv6781163, essv6950830, essv6793593, essv6961982, essv6919107, essv6699906, essv6769813, essv6813409, essv6726108, essv6699905, essv6807579, essv6906365, essv6810531, essv6689505, essv6720822, essv6675467, essv6729890, essv6742356, essv6902787, essv6898816, essv6821450, essv6801824, essv6929369, essv6886189, essv6952451, essv6686378, essv6889237, essv6801823, essv6821449, essv6942107, essv6785290, essv6910335, essv6729891, essv6859496, essv6844105, essv6671321, essv6919096, essv6718428, essv6892572, essv6693080, essv6777206, essv6829247
SamplesSSM100, SSM036, SSM071, SSM027, SSM075, SSM046, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM073, SSM093, SSM088, SSM041, SSM023, SSM047, SSM069, SSM096, SSM026, SSM089, SSM035, SSM032, SSM003, SSM067, SSM044, SSM014, SSM085, SSM068, SSM081, SSM020, SSM007, SSM015, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM070, SSM025, 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)esv2719647
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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