A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585674



Internal ID347253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:37451719..37452009hg38UCSC Ensembl
Outerchr8:37451254..37455131hg38UCSC Ensembl
Innerchr8:37309237..37309527hg19UCSC Ensembl
Outerchr8:37308772..37312649hg19UCSC Ensembl
Innerchr8:37428395..37428685hg18UCSC Ensembl
Outerchr8:37427930..37431807hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg383878
hg193878
hg183878
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275450
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585674
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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