A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393850



Internal ID15240815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48836934..48837732hg38UCSC Ensembl
Innerchr22:48836933..48837733hg38UCSC Ensembl
Outerchr22:48835934..48838732hg38UCSC Ensembl
chr22:49232746..49233544hg19UCSC Ensembl
Innerchr22:49232745..49233545hg19UCSC Ensembl
Outerchr22:49231746..49234544hg19UCSC Ensembl
chr22:47618752..47619550hg18UCSC Ensembl
Innerchr22:47619551..47618751hg18UCSC Ensembl
Outerchr22:47617752..47620550hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693342
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393850
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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