A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449662



Internal ID4065367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48274447..48278691hg38UCSC Ensembl
Innerchr22:48274459..48278679hg38UCSC Ensembl
Outerchr22:48274435..48278703hg38UCSC Ensembl
chr22:48670259..48674503hg19UCSC Ensembl
Innerchr22:48670271..48674491hg19UCSC Ensembl
Outerchr22:48670247..48674515hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg384245
hg194245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648008
Supporting Variants
SamplesHG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449662
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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