A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982400



Internal ID12626998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167043105..167211105hg38UCSC Ensembl
Innerchr1:167012342..167180342hg19UCSC Ensembl
Innerchr1:165278966..165446966hg18UCSC Ensembl
Innerchr1:163744000..163912000hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38168001
hg19168001
hg18168001
hg17168001
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)essv6982400
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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