A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449654



Internal ID4218427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48156180..48158323hg38UCSC Ensembl
Innerchr22:48156193..48158311hg38UCSC Ensembl
Outerchr22:48156168..48158336hg38UCSC Ensembl
chr22:48551997..48554140hg19UCSC Ensembl
Innerchr22:48552010..48554128hg19UCSC Ensembl
Outerchr22:48551985..48554153hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382144
hg192144
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648004
Supporting Variants
SamplesHG03793
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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