A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275346



Internal ID348252
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585847, essv2586181
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)esv275346
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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