A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16448607



Internal ID5135818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47488217..47494920hg38UCSC Ensembl
Innerchr22:47488217..47494920hg38UCSC Ensembl
Outerchr22:47487953..47495191hg38UCSC Ensembl
chr22:47883966..47890669hg19UCSC Ensembl
Innerchr22:47883966..47890669hg19UCSC Ensembl
Outerchr22:47883702..47890940hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386704
hg196704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647988
Supporting Variants
SamplesNA18570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16448607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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