A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983125



Internal ID12628163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31396939..31461739hg38UCSC Ensembl
Innerchr18:28976902..29041702hg19UCSC Ensembl
Innerchr18:27230900..27295700hg18UCSC Ensembl
Innerchr18:27230900..27295700hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3864801
hg1964801
hg1864801
hg1764801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751776
Supporting Variants
SamplesBEC_544
Known GenesDSG3, DSG4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983125
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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