A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34774



Internal ID12990810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105016579..105094648hg38UCSC Ensembl
Innerchr13:105668930..105746999hg19UCSC Ensembl
Innerchr13:104466931..104545000hg18UCSC Ensembl
Innerchr13:104466931..104545000hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3878070
hg1978070
hg1878070
hg1778070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978764, essv6986699, essv6978765, essv6978763
SamplesNA12236
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)esv34774
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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