A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586073



Internal ID966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32574851..32584838hg38UCSC Ensembl
Outerchr8:32571946..32586748hg38UCSC Ensembl
Innerchr8:32432369..32442356hg19UCSC Ensembl
Outerchr8:32429464..32444266hg19UCSC Ensembl
Innerchr8:32551911..32561898hg18UCSC Ensembl
Outerchr8:32549006..32563808hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3814803
hg1914803
hg1814803
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275121
Supporting Variants
Samples
Known GenesNRG1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586073
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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