A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34513



Internal ID12643864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114037..32196283hg38UCSC Ensembl
Innerchr5:32114143..32196389hg19UCSC Ensembl
Innerchr5:32149900..32232146hg18UCSC Ensembl
Innerchr5:32149900..32232146hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3882247
hg1982247
hg1882247
hg1782247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv201e55
Supporting Variantsessv6986707, essv6978784, essv6978785
SamplesNA12248
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34513
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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