A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16445116



Internal ID1010125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46231164..46234617hg38UCSC Ensembl
Innerchr22:46231167..46234615hg38UCSC Ensembl
Outerchr22:46231162..46234620hg38UCSC Ensembl
chr22:46627061..46630514hg19UCSC Ensembl
Innerchr22:46627064..46630512hg19UCSC Ensembl
Outerchr22:46627059..46630517hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383454
hg193454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647949
Supporting Variants
SamplesHG00631
Known GenesPPARA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16445116
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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