A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666489



Internal ID9585908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17070808..17071735hg38UCSC Ensembl
chr19:17181618..17182545hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5712398
SamplesNA06984
Known GenesHAUS8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666489
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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