A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161241



Internal ID7905955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167767647..168060498hg38UCSC Ensembl
Innerchr6:168168327..168461178hg19UCSC Ensembl
Innerchr6:167911176..168204027hg18UCSC Ensembl
Innerchr6:167986883..168279734hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38292852
hg19292852
hg18292852
hg17292852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422375
Supporting Variants
SamplesND02862
Known GenesC6orf123, FRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161241
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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