A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983497



Internal ID12976394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167942764..168226764hg38UCSC Ensembl
Innerchr6:168343444..168627444hg19UCSC Ensembl
Innerchr6:168086293..168370293hg18UCSC Ensembl
Innerchr6:168162000..168446000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38284001
hg19284001
hg18284001
hg17284001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752109
Supporting Variants
SamplesBEC_661
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983497
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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