A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34365



Internal ID12990404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70360836..70386524hg38UCSC Ensembl
Innerchr4:71226553..71252241hg19UCSC Ensembl
Innerchr4:71261142..71286830hg18UCSC Ensembl
Innerchr4:71407313..71433001hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3825689
hg1925689
hg1825689
hg1725689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv187e55
Supporting Variantsessv6979526, essv6979525
SamplesNA18564
Known GenesSMR3A, SMR3B
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)esv34365
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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