A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16445351



Internal ID5091177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46919002..46960556hg38UCSC Ensembl
Innerchr22:46919005..46960553hg38UCSC Ensembl
Outerchr22:46918999..46960559hg38UCSC Ensembl
chr22:47314898..47356452hg19UCSC Ensembl
Innerchr22:47314901..47356449hg19UCSC Ensembl
Outerchr22:47314895..47356455hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3841555
hg1941555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647967
Supporting Variants
SamplesNA18548
Known GenesTBC1D22A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16445351
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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