A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693338



Internal ID15116328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48541876..48543074hg38UCSC Ensembl
Innerchr22:48542074..48542876hg38UCSC Ensembl
Outerchr22:48540876..48544074hg38UCSC Ensembl
chr22:48937688..48938886hg19UCSC Ensembl
Innerchr22:48937886..48938688hg19UCSC Ensembl
Outerchr22:48936688..48939886hg19UCSC Ensembl
chr22:47316352..47317550hg18UCSC Ensembl
Innerchr22:47317352..47316550hg18UCSC Ensembl
Outerchr22:47315352..47318550hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447537
Supporting Variants
SamplesNA19240
Known GenesFAM19A5, LOC284933
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693338
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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