A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16401110



Internal ID6402926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29506399..29525757hg38UCSC Ensembl
chr22:29902388..29921746hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3819359
hg1919359
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647538
Supporting Variants
SamplesHG03575
Known GenesTHOC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16401110
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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