A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752034



Internal ID12985586
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 StatusM
Merged Variants
Supporting Variantsessv6987518, essv6988766
SamplesBEC_799
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752034
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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