A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5507074



Internal ID8484477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17877155..17877496hg38UCSC Ensembl
Outerchr22:17877118..17877546hg38UCSC Ensembl
Innerchr22:18359921..18360262hg19UCSC Ensembl
Outerchr22:18359884..18360312hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669396
Supporting Variants
SamplesNA20535
Known GenesMICAL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5507074
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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