A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987518



Internal ID12977818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:160850243..161080243hg38UCSC Ensembl
Innerchr4:161771395..162001395hg19UCSC Ensembl
Innerchr4:161990845..162220845hg18UCSC Ensembl
Innerchr4:162129000..162359000hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38230001
hg19230001
hg18230001
hg17230001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752034
Supporting Variants
SamplesBEC_799
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987518
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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