A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986578



Internal ID12635013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18170242..19049577hg38UCSC Ensembl
Innerchr16:18264099..19060899hg19UCSC Ensembl
Innerchr16:18171600..18968400hg18UCSC Ensembl
Innerchr16:18171600..18968400hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38879336
hg19796801
hg18796801
hg17796801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34419
Supporting Variants
SamplesNA18994
Known GenesABCC6P1, ARL6IP1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, RPS15A, SMG1, TMC7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986578
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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