A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16435359



Internal ID1782927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43120675..43128505hg38UCSC Ensembl
Innerchr22:43120685..43128495hg38UCSC Ensembl
Outerchr22:43120665..43128515hg38UCSC Ensembl
chr22:43516681..43524511hg19UCSC Ensembl
Innerchr22:43516691..43524501hg19UCSC Ensembl
Outerchr22:43516671..43524521hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387831
hg197831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647854
Supporting Variants
SamplesHG01668
Known GenesBIK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16435359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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