A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5755227



Internal ID8732630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33680377..33680510hg38UCSC Ensembl
chr22:34076363..34076496hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659175
Supporting Variants
SamplesNA18606
Known GenesLARGE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5755227
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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