A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16361266



Internal ID6363082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17713512..17715232hg38UCSC Ensembl
Innerchr22:17713587..17715158hg38UCSC Ensembl
Outerchr22:17713438..17715307hg38UCSC Ensembl
chr22:18196278..18197998hg19UCSC Ensembl
Innerchr22:18196353..18197924hg19UCSC Ensembl
Outerchr22:18196204..18198073hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381721
hg191721
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647234
Supporting Variants
SamplesHG01685
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16361266
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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