A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978452



Internal ID12635308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172663392..172735392hg38UCSC Ensembl
Innerchr5:172090395..172162395hg19UCSC Ensembl
Innerchr5:172023000..172095000hg18UCSC Ensembl
Innerchr5:172023000..172095000hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3872001
hg1972001
hg1872001
hg1772001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978452
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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