A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648084



Internal ID7034821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50101621..50107270hg38UCSC Ensembl
Innerchr22:50102121..50106770hg38UCSC Ensembl
Outerchr22:50100621..50108270hg38UCSC Ensembl
chr22:50540050..50545699hg19UCSC Ensembl
Innerchr22:50540550..50545199hg19UCSC Ensembl
Outerchr22:50539050..50546699hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16462235, essv16462234
SamplesHG01678, HG01395
Known GenesMOV10L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648084
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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