A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305323



Internal ID15152271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148818184..148818185hg38UCSC Ensembl
Innerchr6:148818152..148818217hg38UCSC Ensembl
Outerchr6:148818151..148818218hg38UCSC Ensembl
chr6:149139320..149139321hg19UCSC Ensembl
Innerchr6:149139288..149139353hg19UCSC Ensembl
Outerchr6:149139287..149139354hg19UCSC Ensembl
chr6:149181013..149181014hg18UCSC Ensembl
Innerchr6:149181046..149180981hg18UCSC Ensembl
Outerchr6:149180980..149181047hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741455, essv7744799, essv7749594, essv7751466, essv7747220, essv7742278, essv7744262
SamplesNA18507, NA19190, NA18510, NA18519, NA18871, NA19114, NA19093
Known GenesUST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305323
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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