A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751550



Internal ID12638416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16823280..18769615hg38UCSC Ensembl
Innerchr16:16917137..18780937hg19UCSC Ensembl
Innerchr16:16824638..18688438hg18UCSC Ensembl
Innerchr16:16824638..18688438hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381946336
hg191863801
hg181863801
hg171863801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981571, essv6981572, essv6988420, essv6981570, essv6985612
SamplesBEC_301
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, XYLT1
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)esv2751550
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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