A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421437



Internal ID3852316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38477438..38480347hg38UCSC Ensembl
Innerchr22:38477438..38480347hg38UCSC Ensembl
Outerchr22:38477375..38480391hg38UCSC Ensembl
chr22:38873443..38876352hg19UCSC Ensembl
Innerchr22:38873443..38876352hg19UCSC Ensembl
Outerchr22:38873380..38876396hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382910
hg192910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647733
Supporting Variants
SamplesHG03485
Known GenesKDELR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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