A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665889



Internal ID9585308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48814466..48823106hg38UCSC Ensembl
Outerchr20:48814429..48823156hg38UCSC Ensembl
Innerchr20:47431003..47439643hg19UCSC Ensembl
Outerchr20:47430966..47439693hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg388728
hg198728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6170091
SamplesNA20826
Known GenesPREX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665889
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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