A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16403063



Internal ID2120893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31012535..31026096hg38UCSC Ensembl
Innerchr22:31013035..31025596hg38UCSC Ensembl
Outerchr22:31011535..31027096hg38UCSC Ensembl
chr22:31408521..31422082hg19UCSC Ensembl
Innerchr22:31409021..31421582hg19UCSC Ensembl
Outerchr22:31407521..31423082hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3813562
hg1913562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647577
Supporting Variants
SamplesHG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16403063
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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