A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666540



Internal ID9585959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6645977..6647817hg38UCSC Ensembl
Outerchr16:6645943..6647852hg38UCSC Ensembl
Innerchr16:6695978..6697818hg19UCSC Ensembl
Outerchr16:6695944..6697853hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381910
hg191910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv478e199
Supporting Variantsessv5812145
SamplesNA19002
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666540
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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