A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983124



Internal ID12628160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31396919..31461771hg38UCSC Ensembl
Innerchr18:28976882..29041734hg19UCSC Ensembl
Innerchr18:27230880..27295732hg18UCSC Ensembl
Innerchr18:27230880..27295732hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3864853
hg1964853
hg1864853
hg1764853
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)essv6983124
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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