A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7297801



Internal ID10576083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42705588..42706340hg38UCSC Ensembl
Outerchr22:43101594..43102346hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3028234
Supporting Variants
SamplesHuRef
Known GenesA4GALT
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7297801
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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