A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752251



Internal ID12639117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33556976..34025224hg38UCSC Ensembl
Innerchr8:33414494..33882742hg19UCSC Ensembl
Innerchr8:33534036..34002284hg18UCSC Ensembl
Innerchr8:33534036..34002284hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38468249
hg19468249
hg18468249
hg17468249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987991, essv6987990, essv6981625, essv6989252, essv6981626
SamplesBEC_307
Known GenesDUSP26, RNF122
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)esv2752251
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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