A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668307



Internal ID9587726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6805531..6805719hg38UCSC Ensembl
chr16:6855532..6855720hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6201543, essv5928678, essv5993697, essv5495801, essv6025161, essv5555852, essv5426744
SamplesNA19703, NA20332, NA19920, NA19373, NA19985, NA18523, NA19129
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668307
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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