A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585847



Internal ID347426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5638043..5641431hg38UCSC Ensembl
Outerchr19:5637865..5651866hg38UCSC Ensembl
Innerchr19:5638054..5641442hg19UCSC Ensembl
Outerchr19:5637876..5651877hg19UCSC Ensembl
Innerchr19:5589054..5592442hg18UCSC Ensembl
Outerchr19:5588876..5602877hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3814002
hg1914002
hg1814002
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275346
Supporting Variants
Samples
Known GenesSAFB
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585847
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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