A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5448706



Internal ID8761745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82708920..82711994hg38UCSC Ensembl
chr4:83630073..83633147hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg383075
hg193075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2656999
Supporting Variants
SamplesHG00152
Known GenesSCD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5448706
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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