A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3037123



Internal ID11056789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23683431..23685352hg38UCSC Ensembl
Outerchr22:24025618..24027539hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381922
hg191922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7306690
SamplesHuRef
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3037123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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