A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671964



Internal ID9938069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74203791..74204097hg38UCSC Ensembl
Outerchr5:74203420..74204467hg38UCSC Ensembl
Innerchr5:73499616..73499922hg19UCSC Ensembl
Outerchr5:73499245..73500292hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6244789, essv5706554, essv5545490, essv6532360, essv6178293, essv5602737, essv5721965, essv5670828, essv6188168, essv6401431, essv5498783, essv5550682, essv5795159, essv5527329, essv6279119, essv5724290, essv6109482, essv6533194, essv5585803, essv6031267, essv5464975, essv5521738, essv5440856, essv6474972, essv6555118, essv6486804, essv6017084, essv6042993, essv6449889, essv6563763, essv5664693, essv6597092, essv5645917, essv6294729, essv5629680, essv6270349, essv5552935, essv6521102, essv6350985, essv6552766, essv6498836, essv5484605, essv5471950, essv6321622, essv5906778, essv6033764, essv5825471, essv5606517, essv6044697, essv5844039, essv6460057, essv5810576, essv6554113, essv6389300, essv6216400
SamplesHG00143, HG00231, HG00249, HG00257, HG00151, HG00244, HG00261, HG00138, HG00251, HG00122, HG00247, HG00243, HG00158, HG00139, HG00120, HG00148, HG00236, HG00156, HG00232, HG00160, HG00118, HG00159, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00245, HG00263, HG00250, HG00117, HG00140, HG01334, HG00152, HG00146, HG00246, HG00126, HG00258, HG00124, HG00155, HG00254, HG00119, HG00265, HG00136, HG00237, HG00116, HG00256, HG00125, HG00111, HG00259, HG00123, HG00131, HG00252
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671964
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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