A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986050



Internal ID12971846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2378491..2746316hg38UCSC Ensembl
Innerchr8:2322814..2603842hg19UCSC Ensembl
Innerchr8:2310221..2591249hg18UCSC Ensembl
Innerchr8:2310221..2591249hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38367826
hg19281029
hg18281029
hg17281029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752246
Supporting Variants
SamplesBEC_11
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986050
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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