A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5520959



Internal ID8498362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739371..44741656hg38UCSC Ensembl
chr22:45135251..45137536hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676588
Supporting Variants
SamplesNA19152
Known GenesPRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5520959
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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