A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv553e199



Internal ID22758326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50231852..50241566hg38UCSC Ensembl
chr17:48309213..48318927hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg389715
hg199715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673208, esv2672440
SamplesNA20508, HG01067
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv553e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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