A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665479



Internal ID9584898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7011797..7048543hg38UCSC Ensembl
chr16:7061798..7098544hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3836747
hg1936747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6187070
SamplesHG00684
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665479
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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