A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307100



Internal ID15154048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165562685..165562686hg38UCSC Ensembl
Innerchr1:165562649..165562722hg38UCSC Ensembl
Outerchr1:165562648..165562723hg38UCSC Ensembl
chr1:165531922..165531923hg19UCSC Ensembl
Innerchr1:165531886..165531959hg19UCSC Ensembl
Outerchr1:165531885..165531960hg19UCSC Ensembl
chr1:163798546..163798547hg18UCSC Ensembl
Innerchr1:163798583..163798510hg18UCSC Ensembl
Outerchr1:163798509..163798584hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382130
hg192130
hg182130
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760802, essv7762045, essv7746206, essv7748063, essv7741925
SamplesNA18526, NA18949, NA18572, NA18570, NA18562
Known GenesLOC400794, LRRC52
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307100
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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