A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445273



Internal ID15292225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43737339..43739637hg38UCSC Ensembl
Innerchr22:43738339..43738637hg38UCSC Ensembl
Outerchr22:43736339..43740637hg38UCSC Ensembl
chr22:44133219..44135517hg19UCSC Ensembl
Innerchr22:44134219..44134517hg19UCSC Ensembl
Outerchr22:44132219..44136517hg19UCSC Ensembl
chr22:42464552..42466850hg18UCSC Ensembl
Innerchr22:42465552..42465850hg18UCSC Ensembl
Outerchr22:42463552..42467850hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2620e59
Supporting Variantsessv8693314
SamplesNA19240
Known GenesEFCAB6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445273
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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