A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34419



Internal ID12643772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18170242..19071899hg38UCSC Ensembl
Innerchr16:18264099..19083221hg19UCSC Ensembl
Innerchr16:18171600..18990722hg18UCSC Ensembl
Innerchr16:18171600..18990722hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38901658
hg19819123
hg18819123
hg17819123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986578, essv6990216, essv6978265, essv6986579
SamplesNA18994
Known GenesABCC6P1, ARL6IP1, COQ7, 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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34419
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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