A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv27e196



Internal ID20123226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167767647..168146724hg38UCSC Ensembl
chr6:168168327..168547404hg19UCSC Ensembl
chr6:167911176..168290253hg18UCSC Ensembl
chr6:167986883..168365960hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38379078
hg19379078
hg18379078
hg17379078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422377, esv2422465, esv2422208, esv2422271, esv2422375, esv2422357
SamplesND03102, ND03047, ND02862, ND04361, ND01565, ND00940
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)dgv27e196
Frequency
Sample Size181
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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