A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657782



Internal ID9923887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12550018..12554945hg38UCSC Ensembl
chr19:12660832..12665759hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384928
hg194928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5915425
SamplesNA18999
Known GenesZNF564
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657782
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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