A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349998



Internal ID14850263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42132201..42137597hg38UCSC Ensembl
Innerchr22:42133201..42136597hg38UCSC Ensembl
Outerchr22:42131206..42138597hg38UCSC Ensembl
chr22:42528208..42533606hg19UCSC Ensembl
Innerchr22:42529208..42532606hg19UCSC Ensembl
Outerchr22:42527208..42534606hg19UCSC Ensembl
chr22:40858152..40863550hg18UCSC Ensembl
Innerchr22:40859152..40862550hg18UCSC Ensembl
Outerchr22:40857152..40864550hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385397
hg195399
hg185399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693309
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349998
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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