A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980246



Internal ID12978082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167985895..168195239hg38UCSC Ensembl
Innerchr6:168386575..168595919hg19UCSC Ensembl
Innerchr6:168129424..168338768hg18UCSC Ensembl
Innerchr6:168205131..168414475hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38209345
hg19209345
hg18209345
hg17209345
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980246
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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