A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449675



Internal ID438404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48337927..48351759hg38UCSC Ensembl
Innerchr22:48337998..48351689hg38UCSC Ensembl
Outerchr22:48337857..48351830hg38UCSC Ensembl
chr22:48733739..48747571hg19UCSC Ensembl
Innerchr22:48733810..48747501hg19UCSC Ensembl
Outerchr22:48733669..48747642hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3813833
hg1913833
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648011
Supporting Variants
SamplesHG00136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449675
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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