A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688118



Internal ID14731792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5369589..5371487hg38UCSC Ensembl
Innerchr10:5370487..5370589hg38UCSC Ensembl
Outerchr10:5368589..5372487hg38UCSC Ensembl
chr10:5411552..5413450hg19UCSC Ensembl
Innerchr10:5412450..5412552hg19UCSC Ensembl
Outerchr10:5410552..5414450hg19UCSC Ensembl
chr10:5401552..5403450hg18UCSC Ensembl
Innerchr10:5402552..5402450hg18UCSC Ensembl
Outerchr10:5400552..5404450hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362564
Supporting Variants
SamplesNA19240
Known GenesUCN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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