A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6348924



Internal ID9664169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53836504..53836969hg38UCSC Ensembl
chr20:52453043..52453508hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678355
Supporting Variants
SamplesNA19395
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6348924
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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