A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981393



Internal ID12972042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32116508..32260077hg38UCSC Ensembl
Innerchr5:32116614..32260183hg19UCSC Ensembl
Innerchr5:32152371..32295940hg18UCSC Ensembl
Innerchr5:32152371..32295940hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38143570
hg19143570
hg18143570
hg17143570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752070
Supporting Variants
SamplesBEC_175
Known GenesGOLPH3, MTMR12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981393
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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