A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348741



Internal ID14849006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25820021..25820223hg38UCSC Ensembl
Innerchr22:25820021..25820223hg38UCSC Ensembl
Outerchr22:25816960..25820741hg38UCSC Ensembl
chr22:26215988..26216190hg19UCSC Ensembl
Innerchr22:26215988..26216190hg19UCSC Ensembl
Outerchr22:26212927..26216708hg19UCSC Ensembl
chr22:24545988..24546190hg18UCSC Ensembl
Innerchr22:24545988..24546190hg18UCSC Ensembl
Outerchr22:24542927..24546708hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652158
SamplesNA19240
Known GenesMIR1302-1, MYO18B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348741
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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