A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34578



Internal ID12990615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88863410..89170545hg38UCSC Ensembl
Innerchr13:89515664..89822799hg19UCSC Ensembl
Innerchr13:88313665..88620800hg18UCSC Ensembl
Innerchr13:88313665..88620800hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38307136
hg19307136
hg18307136
hg17307136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986883, essv6986882, essv6979537, essv6979539, essv6979538
SamplesNA18566
Known Genes
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)esv34578
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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