A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673819



Internal ID13366878
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 StatusS
Merged Variantsesv3448829
Supporting Variants
SamplesNA12891
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673819
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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