A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv540e199



Internal ID20123842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:26964108..27464626hg38UCSC Ensembl
chr17:25291134..25791652hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg38500519
hg19500519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2659120, esv2657294
SamplesNA19663, HG00276
Known GenesMIR4522, TBC1D3P5, WSB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv540e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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