A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666899



Internal ID9933004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4691750..4694119hg38UCSC Ensembl
chr19:4691762..4694131hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5624340, essv5589934, essv6584650, essv5419891
SamplesNA20774, NA19725, HG00268, NA12749
Known GenesDPP9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666899
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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