A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978451



Internal ID12635307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172591201..172752581hg38UCSC Ensembl
Innerchr5:172018204..172179584hg19UCSC Ensembl
Innerchr5:171950809..172112189hg18UCSC Ensembl
Innerchr5:171950809..172112189hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38161381
hg19161381
hg18161381
hg17161381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34432
Supporting Variants
SamplesNA19100
Known GenesNEURL1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978451
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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