A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161490



Internal ID7906204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167767647..168095240hg38UCSC Ensembl
Innerchr6:168168327..168495920hg19UCSC Ensembl
Innerchr6:167911176..168238769hg18UCSC Ensembl
Innerchr6:167986883..168314476hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38327594
hg19327594
hg18327594
hg17327594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422208
Supporting Variants
SamplesND04361
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)essv5161490
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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