A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5574204



Internal ID8551607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46009357..46009595hg38UCSC Ensembl
chr17:44086723..44086961hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676042
Supporting Variants
SamplesNA20530
Known GenesMAPT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5574204
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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