A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16441137



Internal ID5487168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45253164..45296565hg38UCSC Ensembl
chr22:45649045..45692446hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3843402
hg1943402
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647922
Supporting Variants
SamplesNA18980
Known GenesUPK3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16441137
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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