A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16348117



Internal ID4023125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15322177..15344328hg38UCSC Ensembl
Innerchr22:15322677..15343828hg38UCSC Ensembl
Outerchr22:15321177..15345328hg38UCSC Ensembl
chr22:16633635..16655786hg19UCSC Ensembl
Innerchr22:16634135..16655286hg19UCSC Ensembl
Outerchr22:16632635..16656786hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3822152
hg1922152
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647182
Supporting Variants
SamplesHG03679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16348117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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