A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983180



Internal ID12974939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233169..35436487hg38UCSC Ensembl
Innerchr16:34467540..34670858hg19UCSC Ensembl
Innerchr16:34325041..34528359hg18UCSC Ensembl
Innerchr16:34325041..34528359hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38203319
hg19203319
hg18203319
hg17203319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751559
Supporting Variants
SamplesBEC_550
Known GenesLOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983180
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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