A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751592



Internal ID12985144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35233128..35526596hg38UCSC Ensembl
Innerchr16:34467499..34760967hg19UCSC Ensembl
Innerchr16:34325000..34618468hg18UCSC Ensembl
Innerchr16:34325000..34618468hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38293469
hg19293469
hg18293469
hg17293469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6987533, essv6984221, essv6984222, essv6984220, essv6987534
SamplesBEC_810
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)esv2751592
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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