A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16444944



Internal ID1671554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46168132..46171083hg38UCSC Ensembl
Innerchr22:46168134..46171081hg38UCSC Ensembl
Outerchr22:46168130..46171085hg38UCSC Ensembl
chr22:46564031..46566982hg19UCSC Ensembl
Innerchr22:46564033..46566980hg19UCSC Ensembl
Outerchr22:46564029..46566984hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382952
hg192952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647943
Supporting Variants
SamplesHG01531
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16444944
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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