A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986419



Internal ID12976201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233128..35436528hg38UCSC Ensembl
Innerchr16:34467499..34670899hg19UCSC Ensembl
Innerchr16:34325000..34528400hg18UCSC Ensembl
Innerchr16:34325000..34528400hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38203401
hg19203401
hg18203401
hg17203401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751564
Supporting Variants
SamplesBEC_646
Known GenesLOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986419
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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