A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984428



Internal ID12630288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168206528hg38UCSC Ensembl
Innerchr6:168335278..168607208hg19UCSC Ensembl
Innerchr6:168078127..168350057hg18UCSC Ensembl
Innerchr6:168153834..168425764hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38271931
hg19271931
hg18271931
hg17271931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752100
Supporting Variants
SamplesBEC_705
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)essv6984428
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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