A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401361



Internal ID14901638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18256299..18256691hg38UCSC Ensembl
Innerchr10:18256311..18256677hg38UCSC Ensembl
Outerchr10:18256285..18256703hg38UCSC Ensembl
chr10:18545228..18545620hg19UCSC Ensembl
Innerchr10:18545240..18545606hg19UCSC Ensembl
Outerchr10:18545214..18545632hg19UCSC Ensembl
chr10:18585234..18585626hg18UCSC Ensembl
Innerchr10:18585246..18585612hg18UCSC Ensembl
Outerchr10:18585220..18585638hg18UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38393
hg19393
hg18393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670432, essv8670433
SamplesNA12891, NA12878
Known GenesCACNB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401361
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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