A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16396785



Internal ID3334088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27101933..27110294hg38UCSC Ensembl
Innerchr22:27101940..27110287hg38UCSC Ensembl
Outerchr22:27101926..27110301hg38UCSC Ensembl
chr22:27497895..27506256hg19UCSC Ensembl
Innerchr22:27497902..27506249hg19UCSC Ensembl
Outerchr22:27497888..27506263hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg388362
hg198362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647491
Supporting Variants
SamplesHG02976
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16396785
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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