A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275221



Internal ID348127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59474885..59475548hg38UCSC Ensembl
Outerchr18:59474321..59477319hg38UCSC Ensembl
Innerchr18:57142117..57142780hg19UCSC Ensembl
Outerchr18:57141553..57144551hg19UCSC Ensembl
Innerchr18:55293097..55293760hg18UCSC Ensembl
Outerchr18:55292533..55295531hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585160
Samples
Known GenesCCBE1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275221
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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