A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987219



Internal ID12983123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233169..35499505hg38UCSC Ensembl
Innerchr16:34467540..34733876hg19UCSC Ensembl
Innerchr16:34325041..34591377hg18UCSC Ensembl
Innerchr16:34325041..34591377hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38266337
hg19266337
hg18266337
hg17266337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751603
Supporting Variants
SamplesSPC_141
Known GenesLOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987219
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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