A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980247



Internal ID12978070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167992764..168182764hg38UCSC Ensembl
Innerchr6:168393444..168583444hg19UCSC Ensembl
Innerchr6:168136293..168326293hg18UCSC Ensembl
Innerchr6:168212000..168402000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38190001
hg19190001
hg18190001
hg17190001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35125
Supporting Variants
SamplesNA06985
Known GenesFRMD1, KIF25, KIF25-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980247
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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