A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672720



Internal ID9592139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122570146..122575337hg38UCSC Ensembl
chr3:122288993..122294184hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385192
hg195192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6234889
SamplesNA20589
Known GenesDTX3L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672720
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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