A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648087



Internal ID7034824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50359379..50368270hg38UCSC Ensembl
Innerchr22:50359379..50368270hg38UCSC Ensembl
Outerchr22:50358879..50368770hg38UCSC Ensembl
chr22:50797808..50806699hg19UCSC Ensembl
Innerchr22:50797808..50806699hg19UCSC Ensembl
Outerchr22:50797308..50807199hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg388892
hg198892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16462242, essv16462243, essv16462244, essv16462241
SamplesHG04164, HG03829, HG02128, HG03925
Known GenesPPP6R2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648087
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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