A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585941



Internal ID347520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11152608..11158934hg38UCSC Ensembl
Outerchr8:11152363..11159006hg38UCSC Ensembl
Innerchr8:11010118..11016444hg19UCSC Ensembl
Outerchr8:11009873..11016516hg19UCSC Ensembl
Innerchr8:11047528..11053854hg18UCSC Ensembl
Outerchr8:11047283..11053926hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386644
hg196644
hg186644
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275517
Supporting Variants
Samples
Known GenesXKR6
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585941
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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