A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674050



Internal ID9940155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47293281..47297941hg38UCSC Ensembl
Outerchr19:47293244..47297991hg38UCSC Ensembl
Innerchr19:47796538..47801198hg19UCSC Ensembl
Outerchr19:47796501..47801248hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651e199
Supporting Variantsessv6357068, essv5706356
SamplesNA19452, NA19311
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674050
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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