A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5812477



Internal ID8789880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33355631..33355792hg38UCSC Ensembl
chr22:33751617..33751778hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672479
Supporting Variants
SamplesHG00253
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5812477
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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