A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16382380



Internal ID6384196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23179309..23308661hg38UCSC Ensembl
chr22:23521496..23650848hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38129353
hg19129353
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647395
Supporting Variants
SamplesHG03557
Known GenesBCR, FBXW4P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16382380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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