A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34538



Internal ID12990575
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 Variantsessv6989295, essv6982264, essv6982265, essv6989601
SamplesBEC_408
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34538
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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