A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670456



Internal ID15097304
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 StatusS
Merged Variantsesv3377492
Supporting Variants
SamplesNA19240
Known GenesLIPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670456
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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