A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668589



Internal ID9934694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40735763..40740480hg38UCSC Ensembl
chr5:40735865..40740582hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg384718
hg194718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5873051
SamplesNA19648
Known GenesTTC33
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668589
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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