A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv551e199



Internal ID22758324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40425938..40433336hg38UCSC Ensembl
chr17:38582190..38589588hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670088, esv2664349
SamplesHG01197
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv551e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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