A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34862



Internal ID12644212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233169..35887724hg38UCSC Ensembl
Innerchr16:34467540..35122095hg19UCSC Ensembl
Innerchr16:34325041..34979596hg18UCSC Ensembl
Innerchr16:34325041..34979596hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38654556
hg19654556
hg18654556
hg17654556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119e55
Supporting Variantsessv6986650, essv6990257
SamplesNA12004
Known GenesFLJ26245, LOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34862
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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