A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426773



Internal ID15273730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213460406..213460423hg38UCSC Ensembl
Innerchr1:213460408..213460421hg38UCSC Ensembl
Outerchr1:213460404..213460425hg38UCSC Ensembl
chr1:213633749..213633766hg19UCSC Ensembl
Innerchr1:213633751..213633764hg19UCSC Ensembl
Outerchr1:213633747..213633768hg19UCSC Ensembl
chr1:211700372..211700389hg18UCSC Ensembl
Innerchr1:211700374..211700387hg18UCSC Ensembl
Outerchr1:211700370..211700391hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863815, essv7863814
SamplesNA12005, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426773
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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