A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990201



Internal ID12634794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36544839..36849139hg38UCSC Ensembl
Innerchr18:34124802..34429102hg19UCSC Ensembl
Innerchr18:32378800..32683100hg18UCSC Ensembl
Innerchr18:32378800..32683100hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38304301
hg19304301
hg18304301
hg17304301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34228
Supporting Variants
SamplesNA18971
Known GenesFHOD3, KIAA1328, TPGS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990201
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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