A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989119



Internal ID12980721
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 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)essv6989119
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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