A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421073



Internal ID2781018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37582219..37590271hg38UCSC Ensembl
Innerchr22:37582275..37590216hg38UCSC Ensembl
Outerchr22:37582164..37590327hg38UCSC Ensembl
chr22:37978226..37986278hg19UCSC Ensembl
Innerchr22:37978282..37986223hg19UCSC Ensembl
Outerchr22:37978171..37986334hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg388053
hg198053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647711
Supporting Variants
SamplesHG02455
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421073
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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