A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16443199



Internal ID5487152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45301005..45330579hg38UCSC Ensembl
chr22:45696886..45726460hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3829575
hg1929575
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647926
Supporting Variants
SamplesNA18980
Known GenesFAM118A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16443199
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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