A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678566



Internal ID9944671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124832149..124841311hg38UCSC Ensembl
chr5:124167842..124177004hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg389163
hg199163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6493359
SamplesNA18941
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678566
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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