A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987141



Internal ID12983877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71178606..71400763hg38UCSC Ensembl
Innerchr18:68845842..69067999hg19UCSC Ensembl
Innerchr18:66996822..67218979hg18UCSC Ensembl
Innerchr18:66996822..67218979hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38222158
hg19222158
hg18222158
hg17222158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751778
Supporting Variants
SamplesSPC_31
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987141
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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