A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586109



Internal ID1002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:32294788..32295648hg38UCSC Ensembl
Outerchr8:32292000..32298269hg38UCSC Ensembl
Innerchr8:32152304..32153164hg19UCSC Ensembl
Outerchr8:32149516..32155785hg19UCSC Ensembl
Innerchr8:32271846..32272706hg18UCSC Ensembl
Outerchr8:32269058..32275327hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386270
hg196270
hg186270
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275566
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)essv2586109
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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