A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979479



Internal ID12633571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32101294..32149137hg38UCSC Ensembl
Innerchr5:32101400..32149243hg19UCSC Ensembl
Innerchr5:32137157..32185000hg18UCSC Ensembl
Innerchr5:32137157..32185000hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3847844
hg1947844
hg1847844
hg1747844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35127
Supporting Variants
SamplesNA18562
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979479
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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