A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751547



Internal ID12638413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12724063..12788479hg38UCSC Ensembl
Innerchr16:12817920..12882336hg19UCSC Ensembl
Innerchr16:12725421..12789837hg18UCSC Ensembl
Innerchr16:12725421..12789837hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3864417
hg1964417
hg1864417
hg1764417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv115e55
Supporting Variantsessv6981403, essv6987951
SamplesBEC_177
Known GenesCPPED1
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)esv2751547
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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