A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982401



Internal ID12627007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167043387..167210900hg38UCSC Ensembl
Innerchr1:167012624..167180137hg19UCSC Ensembl
Innerchr1:165279248..165446761hg18UCSC Ensembl
Innerchr1:163744282..163911795hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38167514
hg19167514
hg18167514
hg17167514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750815
Supporting Variants
SamplesBEC_437
Known GenesDUSP27, GPA33
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982401
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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