A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688136



Internal ID15078628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70960189..70961787hg38UCSC Ensembl
Innerchr10:70960787..70961189hg38UCSC Ensembl
Outerchr10:70959189..70962787hg38UCSC Ensembl
chr10:72719946..72721544hg19UCSC Ensembl
Innerchr10:72720544..72720946hg19UCSC Ensembl
Outerchr10:72718946..72722544hg19UCSC Ensembl
chr10:72389952..72391550hg18UCSC Ensembl
Innerchr10:72390952..72390550hg18UCSC Ensembl
Outerchr10:72388952..72392550hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449829
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688136
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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