A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751590



Internal ID12985142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35215329..35562160hg38UCSC Ensembl
Innerchr16:34449700..34796531hg19UCSC Ensembl
Innerchr16:34307201..34654032hg18UCSC Ensembl
Innerchr16:34307201..34654032hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38346832
hg19346832
hg18346832
hg17346832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6982666, essv6986233, essv6986232, essv6982667
SamplesBEC_578
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)esv2751590
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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