A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986943



Internal ID12980764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79861102..79870902hg38UCSC Ensembl
Innerchr16:79894999..79904799hg19UCSC Ensembl
Innerchr16:78452500..78462300hg18UCSC Ensembl
Innerchr16:78452500..78462300hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg389801
hg199801
hg189801
hg179801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34919
Supporting Variants
SamplesNA18632
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986943
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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