A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16444963



Internal ID3948291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46221257..46225910hg38UCSC Ensembl
Innerchr22:46221282..46225885hg38UCSC Ensembl
Outerchr22:46221232..46225935hg38UCSC Ensembl
chr22:46617154..46621807hg19UCSC Ensembl
Innerchr22:46617179..46621782hg19UCSC Ensembl
Outerchr22:46617129..46621832hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384654
hg194654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647947
Supporting Variants
SamplesHG03600
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16444963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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