A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751609



Internal ID12985161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54422687..54533322hg38UCSC Ensembl
Innerchr16:54456599..54567234hg19UCSC Ensembl
Innerchr16:53014100..53124735hg18UCSC Ensembl
Innerchr16:53014100..53124735hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38110636
hg19110636
hg18110636
hg17110636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981902, essv6981903, essv6981901
SamplesBEC_500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751609
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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