A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161387



Internal ID7906101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167792100..168146724hg38UCSC Ensembl
Innerchr6:168192780..168547404hg19UCSC Ensembl
Innerchr6:167935629..168290253hg18UCSC Ensembl
Innerchr6:168011336..168365960hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38354625
hg19354625
hg18354625
hg17354625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422465
Supporting Variants
SamplesND00940
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)essv5161387
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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