A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672617



Internal ID9938722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33094234..33106976hg38UCSC Ensembl
Outerchr20:33094197..33107026hg38UCSC Ensembl
Innerchr20:31682040..31694782hg19UCSC Ensembl
Outerchr20:31682003..31694832hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812830
hg1912830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5867479
SamplesNA19010
Known GenesBPIFB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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