A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6204928



Internal ID9323269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23683430..23685351hg38UCSC Ensembl
chr22:24025617..24027538hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381922
hg191922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661922
Supporting Variants
SamplesNA18517
Known GenesGUSBP11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6204928
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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