A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275411



Internal ID1631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193224069..193224308hg38UCSC Ensembl
Outerchr1:193222252..193224970hg38UCSC Ensembl
Innerchr1:193193199..193193438hg19UCSC Ensembl
Outerchr1:193191382..193194100hg19UCSC Ensembl
Innerchr1:191459822..191460061hg18UCSC Ensembl
Outerchr1:191458005..191460723hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382719
hg192719
hg182719
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586110, essv2585325
Samples
Known GenesCDC73
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275411
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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