A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978160



Internal ID12981537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:62707806..63055024hg38UCSC Ensembl
Innerchr13:63281939..63629157hg19UCSC Ensembl
Innerchr13:62179940..62527158hg18UCSC Ensembl
Innerchr13:62179940..62527158hg17UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38347219
hg19347219
hg18347219
hg17347219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34669
Supporting Variants
SamplesNA18973
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978160
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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