A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275370



Internal ID1590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16517246..16517618hg38UCSC Ensembl
Outerchr5:16517021..16520270hg38UCSC Ensembl
Innerchr5:16517355..16517727hg19UCSC Ensembl
Outerchr5:16517130..16520379hg19UCSC Ensembl
Innerchr5:16570355..16570727hg18UCSC Ensembl
Outerchr5:16570130..16573379hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg383250
hg193250
hg183250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585813
Samples
Known GenesFAM134B
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275370
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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