A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393757



Internal ID15240722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209770784..209772082hg38UCSC Ensembl
Innerchr1:209771082..209771784hg38UCSC Ensembl
Outerchr1:209769784..209773082hg38UCSC Ensembl
chr1:209944129..209945427hg19UCSC Ensembl
Innerchr1:209944427..209945129hg19UCSC Ensembl
Outerchr1:209943129..209946427hg19UCSC Ensembl
chr1:208010752..208012050hg18UCSC Ensembl
Innerchr1:208011752..208011050hg18UCSC Ensembl
Outerchr1:208009752..208013050hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692116
SamplesNA19238
Known GenesTRAF3IP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393757
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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