A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5867479



Internal ID9522634
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 Flag1
Merged StatusS
Merged Variantsesv2672617
Supporting Variants
SamplesNA19010
Known GenesBPIFB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5867479
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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