A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34485



Internal ID12643836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6723807..6752378hg38UCSC Ensembl
Innerchr16:6773808..6802379hg19UCSC Ensembl
Innerchr16:6713809..6742380hg18UCSC Ensembl
Innerchr16:6713809..6742380hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3828572
hg1928572
hg1828572
hg1728572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988109, essv6979138, essv6979139
SamplesNA18500
Known GenesRBFOX1
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)esv34485
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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