A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978238



Internal ID12981650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49519454..49626810hg38UCSC Ensembl
Innerchr8:50432013..50539369hg19UCSC Ensembl
Innerchr8:50594566..50701922hg18UCSC Ensembl
Innerchr8:50594566..50701922hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38107357
hg19107357
hg18107357
hg17107357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34964
Supporting Variants
SamplesNA18990
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978238
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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