A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751569



Internal ID12985121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35203218..35526628hg38UCSC Ensembl
Innerchr16:34437589..34760999hg19UCSC Ensembl
Innerchr16:34295090..34618500hg18UCSC Ensembl
Innerchr16:34295090..34618500hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38323411
hg19323411
hg18323411
hg17323411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117e55
Supporting Variantsessv6988711, essv6983771, essv6983770, essv6986509
SamplesBEC_625
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)esv2751569
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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