A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16414559



Internal ID3712933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36455613..36456910hg38UCSC Ensembl
Innerchr22:36455613..36456910hg38UCSC Ensembl
Outerchr22:36455312..36457140hg38UCSC Ensembl
chr22:36851660..36852957hg19UCSC Ensembl
Innerchr22:36851660..36852957hg19UCSC Ensembl
Outerchr22:36851359..36853187hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647685
Supporting Variants
SamplesHG03313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16414559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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