A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5433433



Internal ID9320698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45046546..45050821hg38UCSC Ensembl
chr17:43123914..43128189hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384276
hg194276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674469
Supporting Variants
SamplesNA18511
Known GenesDCAKD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5433433
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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