A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666880



Internal ID9932985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54959207..54960664hg38UCSC Ensembl
chr19:55470575..55472032hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5515296, essv6468557, essv5629486, essv5532241, essv6032134, essv5504178, essv6129537, essv6437178, essv6156910, essv6452100, essv5861186, essv5600620
SamplesHG01051, NA20771, HG00138, HG00139, NA11994, HG00108, HG00732, NA19655, NA11893, HG01334, NA19773, HG00267
Known GenesRNU6-35P, RNU6-64P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666880
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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