A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666374



Internal ID9585793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57504178..57505458hg38UCSC Ensembl
chr20:56079234..56080514hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6382433, essv5646424, essv6008387, essv5642142
SamplesHG00261, NA19920, NA19834, HG00133
Known GenesCTCFL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666374
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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