A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986715



Internal ID12979163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18488160..18737660hg38UCSC Ensembl
Innerchr13:19062300..19311800hg19UCSC Ensembl
Innerchr13:17960300..18209800hg18UCSC Ensembl
Innerchr13:17960300..18209800hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38249501
hg19249501
hg18249501
hg17249501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34400
Supporting Variants
SamplesNA12716
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986715
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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