A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676125



Internal ID9942230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115067562..115073652hg38UCSC Ensembl
chr5:114403259..114409349hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg386091
hg196091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6105887
SamplesNA20801
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676125
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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