A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647879



Internal ID6687932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43885717..43889772hg38UCSC Ensembl
Innerchr22:43885739..43889751hg38UCSC Ensembl
Outerchr22:43885696..43889794hg38UCSC Ensembl
chr22:44281597..44285652hg19UCSC Ensembl
Innerchr22:44281619..44285631hg19UCSC Ensembl
Outerchr22:44281576..44285674hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16435839
SamplesHG02442
Known GenesPNPLA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647879
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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