A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422357



Internal ID7906454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167774982..168070500hg38UCSC Ensembl
Innerchr6:168175662..168471180hg19UCSC Ensembl
Innerchr6:167918511..168214029hg18UCSC Ensembl
Innerchr6:167994218..168289736hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38295519
hg19295519
hg18295519
hg17295519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e196
Supporting Variantsessv5161471
SamplesND01565
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)esv2422357
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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