A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979879



Internal ID12634213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5069868..5288278hg38UCSC Ensembl
Innerchr16:5119869..5338279hg19UCSC Ensembl
Innerchr16:5059870..5278280hg18UCSC Ensembl
Innerchr16:5059870..5278280hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38218411
hg19218411
hg18218411
hg17218411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34300
Supporting Variants
SamplesNA18855
Known GenesALG1, FAM86A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979879
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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