A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377289



Internal ID14877555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107599835..107599845hg38UCSC Ensembl
Innerchr1:107599827..107599851hg38UCSC Ensembl
Outerchr1:107599817..107599861hg38UCSC Ensembl
chr1:108142457..108142467hg19UCSC Ensembl
Innerchr1:108142449..108142473hg19UCSC Ensembl
Outerchr1:108142439..108142483hg19UCSC Ensembl
chr1:107943980..107943990hg18UCSC Ensembl
Innerchr1:107943996..107943972hg18UCSC Ensembl
Outerchr1:107943962..107944006hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38272
hg19272
hg18272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673739, essv8673740, essv8673738
SamplesNA19238, NA12892, NA19240
Known GenesVAV3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377289
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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