A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34878



Internal ID12990914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123247407..123294659hg38UCSC Ensembl
Innerchr5:122583101..122630353hg19UCSC Ensembl
Innerchr5:122611000..122658252hg18UCSC Ensembl
Innerchr5:122611000..122658252hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3847253
hg1947253
hg1847253
hg1747253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986906, essv6979613
SamplesNA18579
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)esv34878
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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