A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688137



Internal ID14731140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77362188..77362486hg38UCSC Ensembl
Innerchr10:77362187..77362487hg38UCSC Ensembl
Outerchr10:77361188..77363486hg38UCSC Ensembl
chr10:79121946..79122244hg19UCSC Ensembl
Innerchr10:79121945..79122245hg19UCSC Ensembl
Outerchr10:79120946..79123244hg19UCSC Ensembl
chr10:78791952..78792250hg18UCSC Ensembl
Innerchr10:78792251..78791951hg18UCSC Ensembl
Outerchr10:78790952..78793250hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431469
Supporting Variants
SamplesNA19240
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688137
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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