A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5436373



Internal ID8413776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9971923..9971944hg38UCSC Ensembl
Outerchr19:9971787..9972076hg38UCSC Ensembl
Innerchr19:10082620..10082599hg19UCSC Ensembl
Outerchr19:10082463..10082752hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659051
Supporting Variants
SamplesNA19147
Known GenesCOL5A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5436373
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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