A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978265



Internal ID12634997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18595267..19049626hg38UCSC Ensembl
Innerchr16:18606589..19060948hg19UCSC Ensembl
Innerchr16:18514090..18968449hg18UCSC Ensembl
Innerchr16:18514090..18968449hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38454360
hg19454360
hg18454360
hg17454360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34419
Supporting Variants
SamplesNA18994
Known GenesABCC6P1, ARL6IP1, RPS15A, SMG1, TMC7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978265
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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