A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16420843



Internal ID5884852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37272654..37273134hg38UCSC Ensembl
Innerchr22:37272668..37273121hg38UCSC Ensembl
Outerchr22:37272641..37273148hg38UCSC Ensembl
chr22:37668695..37669175hg19UCSC Ensembl
Innerchr22:37668709..37669162hg19UCSC Ensembl
Outerchr22:37668682..37669189hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647706
Supporting Variants
SamplesNA19309
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16420843
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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