A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585391



Internal ID346970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:53059746..53062575hg38UCSC Ensembl
Outerchr18:53056440..53062799hg38UCSC Ensembl
Innerchr18:50586116..50588945hg19UCSC Ensembl
Outerchr18:50582810..50589169hg19UCSC Ensembl
Innerchr18:48840114..48842943hg18UCSC Ensembl
Outerchr18:48836808..48843167hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg386360
hg196360
hg186360
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275215
Supporting Variants
Samples
Known GenesDCC
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585391
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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