A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751575



Internal ID12985127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35203218..35556063hg38UCSC Ensembl
Innerchr16:34437589..34790434hg19UCSC Ensembl
Innerchr16:34295090..34647935hg18UCSC Ensembl
Innerchr16:34295090..34647935hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38352846
hg19352846
hg18352846
hg17352846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6983559, essv6988685
SamplesBEC_668
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751575
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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