A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981751



Internal ID12972613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32116508..32237419hg38UCSC Ensembl
Innerchr5:32116614..32237525hg19UCSC Ensembl
Innerchr5:32152371..32273282hg18UCSC Ensembl
Innerchr5:32152371..32273282hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38120912
hg19120912
hg18120912
hg17120912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752068
Supporting Variants
SamplesBEC_333
Known GenesGOLPH3, MTMR12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981751
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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