A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751606



Internal ID12985158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35244934..35522700hg38UCSC Ensembl
Innerchr16:34479305..34757071hg19UCSC Ensembl
Innerchr16:34336806..34614572hg18UCSC Ensembl
Innerchr16:34336806..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38277767
hg19277767
hg18277767
hg17277767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6982312, essv6982311
SamplesBEC_415
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)esv2751606
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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