A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985143



Internal ID12982848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168182438hg38UCSC Ensembl
Innerchr6:168335278..168583118hg19UCSC Ensembl
Innerchr6:168078127..168325967hg18UCSC Ensembl
Innerchr6:168153834..168401674hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38247841
hg19247841
hg18247841
hg17247841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752110
Supporting Variants
SamplesSPC_102
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)essv6985143
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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