A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585161



Internal ID54
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7118363..7118504hg38UCSC Ensembl
Outerchr16:7117885..7119429hg38UCSC Ensembl
Innerchr16:7168364..7168505hg19UCSC Ensembl
Outerchr16:7167886..7169430hg19UCSC Ensembl
Innerchr16:7108365..7108506hg18UCSC Ensembl
Outerchr16:7107887..7109431hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381545
hg191545
hg181545
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275331
Supporting Variants
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585161
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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