A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6045975



Internal ID9023378
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 Flag1
Merged StatusS
Merged Variantsesv2659120
Supporting Variants
SamplesNA19663
Known GenesMIR4522, TBC1D3P5, WSB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6045975
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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