A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670432



Internal ID13306084
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 StatusS
Merged Variantsesv3401361
Supporting Variants
SamplesNA12878
Known GenesCACNB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670432
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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