A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657642



Internal ID9577061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6907737..6908439hg38UCSC Ensembl
chr16:6957738..6958440hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5887987, essv5992858, essv6011594, essv6165133, essv5610477, essv6464745, essv5569510, essv6097048, essv6012921, essv6302494, essv5794620, essv5629500, essv6069507, essv5664652, essv5982322, essv6513873, essv5559777, essv6204679, essv6035878, essv6159387, essv6451566, essv5495630, essv5833894, essv6498466, essv5852912, essv6036024, essv6489264, essv6234479, essv6306012, essv5991090, essv5462240, essv5640093, essv6399225, essv6520724, essv6255781
SamplesHG00313, NA12748, NA20809, NA20752, HG00160, NA06989, HG01079, HG01365, HG00122, HG00106, HG00146, HG00321, NA19914, HG00346, NA12282, HG00140, NA12155, HG00338, NA11831, HG00159, NA12778, NA12348, NA06986, HG00103, NA19707, HG00120, NA20581, HG01334, NA12413, HG00138, NA20812, NA20792, NA12717, HG00336, HG01354
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657642
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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