A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34475



Internal ID12990513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:699075..822008hg38UCSC Ensembl
Innerchr5:699190..822123hg19UCSC Ensembl
Innerchr5:752190..875123hg18UCSC Ensembl
Innerchr5:752190..875123hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38122934
hg19122934
hg18122934
hg17122934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195e55
Supporting Variantsessv6978025, essv6978024
SamplesNA10857
Known GenesZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34475
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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