A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35104



Internal ID12991140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136873905hg38UCSC Ensembl
Innerchr8:137687955..137886148hg19UCSC Ensembl
Innerchr8:137757137..137955330hg18UCSC Ensembl
Innerchr8:137757137..137955330hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38198194
hg19198194
hg18198194
hg17198194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6985800, essv6990144
SamplesSPC_52
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)esv35104
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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