A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647223



Internal ID7033964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17565939..17566707hg38UCSC Ensembl
Innerchr22:17565989..17566624hg38UCSC Ensembl
Outerchr22:17565878..17566768hg38UCSC Ensembl
chr22:18045650..18046418hg19UCSC Ensembl
Innerchr22:18045700..18046335hg19UCSC Ensembl
Outerchr22:18045589..18046479hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16358304, essv16358301, essv16358303, essv16358302
SamplesHG02769, HG02645, HG03470, HG02643
Known GenesSLC25A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647223
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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