A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979355



Internal ID12980044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180546698..180551698hg38UCSC Ensembl
Innerchr4:181467851..181472851hg19UCSC Ensembl
Innerchr4:181704845..181709845hg18UCSC Ensembl
Innerchr4:181843000..181848000hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg385001
hg195001
hg185001
hg175001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35033
Supporting Variants
SamplesNA18532
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979355
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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