A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161256



Internal ID7905970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81032428..81147122hg38UCSC Ensembl
Innerchr16:81066033..81180727hg19UCSC Ensembl
Innerchr16:79623534..79738228hg18UCSC Ensembl
Innerchr16:79623534..79738228hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38114695
hg19114695
hg18114695
hg17114695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2422360
Supporting Variants
SamplesND03628
Known GenesATMIN, C16orf46, CENPN, GCSH, PKD1L2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161256
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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