A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751574



Internal ID12985126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35203218..35556000hg38UCSC Ensembl
Innerchr16:34437589..34790371hg19UCSC Ensembl
Innerchr16:34295090..34647872hg18UCSC Ensembl
Innerchr16:34295090..34647872hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38352783
hg19352783
hg18352783
hg17352783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6988807, essv6984461, essv6984462
SamplesBEC_708
Known GenesLOC100130700, 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)esv2751574
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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