A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349022



Internal ID14849287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200125166..200125185hg38UCSC Ensembl
Innerchr1:200125162..200125189hg38UCSC Ensembl
Outerchr1:200125143..200125208hg38UCSC Ensembl
chr1:200094294..200094313hg19UCSC Ensembl
Innerchr1:200094290..200094317hg19UCSC Ensembl
Outerchr1:200094271..200094336hg19UCSC Ensembl
chr1:198360917..198360936hg18UCSC Ensembl
Innerchr1:198360940..198360913hg18UCSC Ensembl
Outerchr1:198360894..198360959hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9597758
SamplesNA12873
Known GenesNR5A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349022
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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