A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5929541



Internal ID9398364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83300555..83300840hg38UCSC Ensembl
chr4:84221708..84221993hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667959
Supporting Variants
SamplesNA18602
Known GenesHPSE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5929541
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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