A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647947



Internal ID7034686
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16444963, essv16444962
SamplesHG00376, HG03600
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647947
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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