A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667957



Internal ID9587376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58509882..58512141hg38UCSC Ensembl
chr19:59021249..59023508hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5899623
SamplesNA19788
Known GenesSLC27A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667957
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer