A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421306



Internal ID3898947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38340567..38341892hg38UCSC Ensembl
Innerchr22:38340617..38341843hg38UCSC Ensembl
Outerchr22:38340518..38341942hg38UCSC Ensembl
chr22:38736572..38737897hg19UCSC Ensembl
Innerchr22:38736622..38737848hg19UCSC Ensembl
Outerchr22:38736523..38737947hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381326
hg191326
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647726
Supporting Variants
SamplesHG03557
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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