A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657721



Internal ID9923826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56516769..56525543hg38UCSC Ensembl
Outerchr4:56516612..56525696hg38UCSC Ensembl
Innerchr4:57382935..57391709hg19UCSC Ensembl
Outerchr4:57382778..57391862hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg389085
hg199085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5439671
SamplesHG00180
Known GenesARL9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657721
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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