A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5560319



Internal ID8537722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:691550..692081hg38UCSC Ensembl
Outerchr19:691511..692138hg38UCSC Ensembl
Innerchr19:691550..692081hg19UCSC Ensembl
Outerchr19:691511..692138hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667208
Supporting Variants
SamplesNA20760
Known GenesPRSS57
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5560319
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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