A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647946



Internal ID7034685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46211749..46213480hg38UCSC Ensembl
Innerchr22:46211773..46213456hg38UCSC Ensembl
Outerchr22:46211725..46213504hg38UCSC Ensembl
chr22:46607646..46609377hg19UCSC Ensembl
Innerchr22:46607670..46609353hg19UCSC Ensembl
Outerchr22:46607622..46609401hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381732
hg191732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16444960, essv16444959, essv16444961
SamplesHG02154, HG02355, HG02391
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647946
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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