A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658047



Internal ID9577466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46644992..46648167hg38UCSC Ensembl
chr21:48064904..48068079hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383176
hg193176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364544
SamplesHG00581
Known GenesPRMT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658047
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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