A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673238



Internal ID9592657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6947878..7040981hg38UCSC Ensembl
Outerchr16:6947841..7041031hg38UCSC Ensembl
Innerchr16:6997879..7090982hg19UCSC Ensembl
Outerchr16:6997842..7091032hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893191
hg1993191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6525819
SamplesNA07346
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673238
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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