A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979878



Internal ID12634214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5005940..5322534hg38UCSC Ensembl
Innerchr16:5055941..5372535hg19UCSC Ensembl
Innerchr16:4995942..5312536hg18UCSC Ensembl
Innerchr16:4995942..5312536hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38316595
hg19316595
hg18316595
hg17316595
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979878
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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