A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988243



Internal ID12980715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70362823..70386523hg38UCSC Ensembl
Innerchr4:71228540..71252240hg19UCSC Ensembl
Innerchr4:71263129..71286829hg18UCSC Ensembl
Innerchr4:71409300..71433000hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3823701
hg1923701
hg1823701
hg1723701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35118
Supporting Variants
SamplesNA18623
Known GenesSMR3A, SMR3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988243
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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