A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990419



Internal ID12634210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5005938..5311878hg38UCSC Ensembl
Innerchr16:5055939..5361879hg19UCSC Ensembl
Innerchr16:4995940..5301880hg18UCSC Ensembl
Innerchr16:4995940..5301880hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38305941
hg19305941
hg18305941
hg17305941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34300
Supporting Variants
SamplesNA18855
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990419
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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