A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441106



Internal ID14941373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71223755..71223789hg38UCSC Ensembl
Innerchr10:71223769..71223773hg38UCSC Ensembl
Outerchr10:71223741..71223803hg38UCSC Ensembl
chr10:72983512..72983546hg19UCSC Ensembl
Innerchr10:72983526..72983530hg19UCSC Ensembl
Outerchr10:72983498..72983560hg19UCSC Ensembl
chr10:72653518..72653552hg18UCSC Ensembl
Innerchr10:72653532..72653536hg18UCSC Ensembl
Outerchr10:72653504..72653566hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38137
hg19137
hg18137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8949429, essv8949427, essv8949428
SamplesNA11894, NA12144, NA07346
Known GenesUNC5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441106
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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