A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678430



Internal ID9944535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158293113..158298902hg38UCSC Ensembl
chr4:159214265..159220054hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg385790
hg195790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983737, essv6031925
SamplesHG00693, HG00512
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678430
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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