A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv541e199



Internal ID22758314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27241041..27242318hg38UCSC Ensembl
chr17:25568067..25569344hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2661419, esv2673857
SamplesNA20813, NA19197, NA19235, HG01108, NA20334, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv541e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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