A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979537



Internal ID12980344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88863410..89170499hg38UCSC Ensembl
Innerchr13:89515664..89822753hg19UCSC Ensembl
Innerchr13:88313665..88620754hg18UCSC Ensembl
Innerchr13:88313665..88620754hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38307090
hg19307090
hg18307090
hg17307090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34578
Supporting Variants
SamplesNA18566
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979537
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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