A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808534



Internal ID13642782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70143364..70143881hg38UCSC Ensembl
Innerchr10:70143363..70143882hg38UCSC Ensembl
Outerchr10:70143254..70144001hg38UCSC Ensembl
chr10:71903120..71903637hg19UCSC Ensembl
Innerchr10:71903119..71903638hg19UCSC Ensembl
Outerchr10:71903010..71903757hg19UCSC Ensembl
chr10:71573126..71573643hg18UCSC Ensembl
Innerchr10:71573644..71573125hg18UCSC Ensembl
Outerchr10:71573016..71573763hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38518
hg19518
hg18518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397257
Supporting Variants
SamplesNA12878
Known GenesTYSND1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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