A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16404303



Internal ID3023029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32004592..32053519hg38UCSC Ensembl
chr22:32400579..32449506hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3848928
hg1948928
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647598
Supporting Variants
SamplesHG02660
Known GenesSLC5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16404303
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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