A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585813



Internal ID706
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275370
Supporting Variants
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)essv2585813
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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