A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5893943



Internal ID8871346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2627385..2627532hg38UCSC Ensembl
chr4:2629112..2629259hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678225
Supporting Variants
SamplesHG00736
Known GenesFAM193A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5893943
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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