A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5413090



Internal ID8390493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37187206..37187518hg38UCSC Ensembl
chr20:35815609..35815921hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663037
Supporting Variants
SamplesNA19712
Known GenesRPN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5413090
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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