A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586084



Internal ID347663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:109604734..109604963hg38UCSC Ensembl
Outerchr8:109604111..109605333hg38UCSC Ensembl
Innerchr8:110616963..110617192hg19UCSC Ensembl
Outerchr8:110616340..110617562hg19UCSC Ensembl
Innerchr8:110686139..110686368hg18UCSC Ensembl
Outerchr8:110685516..110686738hg18UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275395
Supporting Variants
Samples
Known GenesSYBU
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2586084
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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