A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5677751



Internal ID8655154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112417..19113112hg38UCSC Ensembl
chr22:19099930..19100625hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678705
Supporting Variants
SamplesNA19311
Known GenesDGCR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5677751
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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