A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34919



Internal ID12990955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79856062..79889413hg38UCSC Ensembl
Innerchr16:79889959..79923310hg19UCSC Ensembl
Innerchr16:78447460..78480811hg18UCSC Ensembl
Innerchr16:78447460..78480811hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3833352
hg1933352
hg1833352
hg1733352
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979786, essv6986943
SamplesNA18632
Known Genes
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)esv34919
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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