A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35118



Internal ID12991154
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 Variantsessv6989119, essv6988243
SamplesNA18623
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)esv35118
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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