A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35111



Internal ID12991147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675575..136850192hg38UCSC Ensembl
Innerchr8:137687818..137862435hg19UCSC Ensembl
Innerchr8:137757000..137931617hg18UCSC Ensembl
Innerchr8:137757000..137931617hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38174618
hg19174618
hg18174618
hg17174618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6989819, essv6983579, essv6983578
SamplesBEC_669
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35111
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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