A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377492



Internal ID15224465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89214499..89214845hg38UCSC Ensembl
Innerchr10:89214637..89214707hg38UCSC Ensembl
Outerchr10:89214361..89214983hg38UCSC Ensembl
chr10:90974256..90974602hg19UCSC Ensembl
Innerchr10:90974394..90974464hg19UCSC Ensembl
Outerchr10:90974118..90974740hg19UCSC Ensembl
chr10:90964236..90964582hg18UCSC Ensembl
Innerchr10:90964374..90964444hg18UCSC Ensembl
Outerchr10:90964098..90964720hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38347
hg19347
hg18347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670456, essv8670455
SamplesNA19238, NA19240
Known GenesLIPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377492
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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