A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5980131



Internal ID9534956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66130500..66132971hg38UCSC Ensembl
Outerchr8:66130463..66133021hg38UCSC Ensembl
Innerchr8:67042735..67045206hg19UCSC Ensembl
Outerchr8:67042698..67045256hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660962
Supporting Variants
SamplesNA19065
Known GenesTRIM55
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5980131
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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