A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5406156



Internal ID9682881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130047909..130048058hg38UCSC Ensembl
Outerchr5:130047752..130048211hg38UCSC Ensembl
Innerchr5:129383602..129383751hg19UCSC Ensembl
Outerchr5:129383445..129383904hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663844
Supporting Variants
SamplesNA19434
Known GenesCHSY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5406156
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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