A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448829



Internal ID14949092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181632131..181632142hg38UCSC Ensembl
Innerchr1:181632126..181632147hg38UCSC Ensembl
Outerchr1:181632115..181632158hg38UCSC Ensembl
chr1:181601267..181601278hg19UCSC Ensembl
Innerchr1:181601262..181601283hg19UCSC Ensembl
Outerchr1:181601251..181601294hg19UCSC Ensembl
chr1:179867890..179867901hg18UCSC Ensembl
Innerchr1:179867906..179867885hg18UCSC Ensembl
Outerchr1:179867874..179867917hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673819, essv8673818
SamplesNA12891, NA12878
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448829
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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