A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667942



Internal ID9934047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83668286..83670683hg38UCSC Ensembl
chr4:84589439..84591836hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382398
hg192398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6309283, essv5647149, essv5494782, essv5774848, essv6498910
SamplesNA19350, NA19384, NA19471, NA19347, NA19438
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667942
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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