A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6100761



Internal ID9078164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17658930..17661862hg38UCSC Ensembl
chr22:18141696..18144628hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660619
Supporting Variants
SamplesHG00174
Known GenesBCL2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6100761
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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