A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409164



Internal ID15256125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45704975..45704979hg38UCSC Ensembl
Innerchr6:45704977..45704977hg38UCSC Ensembl
Outerchr6:45704973..45704981hg38UCSC Ensembl
chr6:45672712..45672716hg19UCSC Ensembl
Innerchr6:45672714..45672714hg19UCSC Ensembl
Outerchr6:45672710..45672718hg19UCSC Ensembl
chr6:45780690..45780694hg18UCSC Ensembl
Innerchr6:45780692..45780692hg18UCSC Ensembl
Outerchr6:45780688..45780696hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864581, essv7864582
SamplesNA19172, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409164
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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