A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989252



Internal ID12625732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33674608..33998584hg38UCSC Ensembl
Innerchr8:33532126..33856102hg19UCSC Ensembl
Innerchr8:33651668..33975644hg18UCSC Ensembl
Innerchr8:33651668..33975644hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38323977
hg19323977
hg18323977
hg17323977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752251
Supporting Variants
SamplesBEC_307
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989252
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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