A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978024



Internal ID12978491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:699075..821611hg38UCSC Ensembl
Innerchr5:699190..821726hg19UCSC Ensembl
Innerchr5:752190..874726hg18UCSC Ensembl
Innerchr5:752190..874726hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38122537
hg19122537
hg18122537
hg17122537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34475
Supporting Variants
SamplesNA10857
Known GenesZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978024
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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