A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5813906



Internal ID8791309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43631951..43632243hg38UCSC Ensembl
chr21:45051832..45052124hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659710
Supporting Variants
SamplesHG00284
Known GenesHSF2BP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5813906
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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