A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34795



Internal ID12990831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54117864..54121793hg38UCSC Ensembl
Innerchr13:54691999..54695928hg19UCSC Ensembl
Innerchr13:53590000..53593929hg18UCSC Ensembl
Innerchr13:53590000..53593929hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383930
hg193930
hg183930
hg173930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979595, essv6979594
SamplesNA18577
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34795
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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