A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664398



Internal ID9583817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6112938..6114944hg38UCSC Ensembl
Outerchr16:6112901..6114994hg38UCSC Ensembl
Innerchr16:6162939..6164945hg19UCSC Ensembl
Outerchr16:6162902..6164995hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6283105
SamplesNA18624
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664398
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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