A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422377



Internal ID7906474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167797245..168070500hg38UCSC Ensembl
Innerchr6:168197925..168471180hg19UCSC Ensembl
Innerchr6:167940774..168214029hg18UCSC Ensembl
Innerchr6:168016481..168289736hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38273256
hg19273256
hg18273256
hg17273256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e196
Supporting Variantsessv5161330
SamplesND03102
Known GenesFRMD1, 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)esv2422377
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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