A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16393936



Internal ID3694837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24218290..24220976hg38UCSC Ensembl
Innerchr22:24218290..24220976hg38UCSC Ensembl
Outerchr22:24218096..24221164hg38UCSC Ensembl
chr22:24614258..24616944hg19UCSC Ensembl
Innerchr22:24614258..24616944hg19UCSC Ensembl
Outerchr22:24614064..24617132hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382687
hg192687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647429
Supporting Variants
SamplesHG03298
Known GenesGGT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16393936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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