A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275517



Internal ID348423
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585941, essv2585576
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)esv275517
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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