A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986948



Internal ID12634083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114071..32196283hg38UCSC Ensembl
Innerchr5:32114177..32196389hg19UCSC Ensembl
Innerchr5:32149934..32232146hg18UCSC Ensembl
Innerchr5:32149934..32232146hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3882213
hg1982213
hg1882213
hg1782213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34731
Supporting Variants
SamplesNA18632
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986948
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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