A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16386582



Internal ID5596449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23683397..23685350hg38UCSC Ensembl
Innerchr22:23683398..23685349hg38UCSC Ensembl
Outerchr22:23683396..23685351hg38UCSC Ensembl
chr22:24025584..24027537hg19UCSC Ensembl
Innerchr22:24025585..24027536hg19UCSC Ensembl
Outerchr22:24025583..24027538hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381954
hg191954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647412
Supporting Variants
SamplesNA19030
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16386582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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