A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34379



Internal ID12990418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136873575hg38UCSC Ensembl
Innerchr8:137687955..137885818hg19UCSC Ensembl
Innerchr8:137757137..137955000hg18UCSC Ensembl
Innerchr8:137757137..137955000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38197864
hg19197864
hg18197864
hg17197864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6978792, essv6988048, essv6978794, essv6978793
SamplesNA12249
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)esv34379
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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