A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980029



Internal ID12981143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54719256..54813470hg38UCSC Ensembl
Innerchr16:54753168..54847382hg19UCSC Ensembl
Innerchr16:53310669..53404883hg18UCSC Ensembl
Innerchr16:53310669..53404883hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3894215
hg1994215
hg1894215
hg1794215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34604
Supporting Variants
SamplesNA18942
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980029
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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