A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979139



Internal ID12632989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6727528..6752378hg38UCSC Ensembl
Innerchr16:6777529..6802379hg19UCSC Ensembl
Innerchr16:6717530..6742380hg18UCSC Ensembl
Innerchr16:6717530..6742380hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3824851
hg1924851
hg1824851
hg1724851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34485
Supporting Variants
SamplesNA18500
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979139
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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