A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310337



Internal ID14810602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181632130..181632131hg38UCSC Ensembl
Innerchr1:181632104..181632157hg38UCSC Ensembl
Outerchr1:181632103..181632158hg38UCSC Ensembl
chr1:181601266..181601267hg19UCSC Ensembl
Innerchr1:181601240..181601293hg19UCSC Ensembl
Outerchr1:181601239..181601294hg19UCSC Ensembl
chr1:179867889..179867890hg18UCSC Ensembl
Innerchr1:179867916..179867863hg18UCSC Ensembl
Outerchr1:179867862..179867917hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838626, essv7837326
SamplesNA19238, NA19240
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310337
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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