A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449609



Internal ID5359081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47825430..47840364hg38UCSC Ensembl
chr22:48221179..48236113hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3814935
hg1914935
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648000
Supporting Variants
SamplesNA18908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449609
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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