A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979594



Internal ID12980438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54117864..54121764hg38UCSC Ensembl
Innerchr13:54691999..54695899hg19UCSC Ensembl
Innerchr13:53590000..53593900hg18UCSC Ensembl
Innerchr13:53590000..53593900hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383901
hg193901
hg183901
hg173901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34795
Supporting Variants
SamplesNA18577
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979594
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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