A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419036



Internal ID15265994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194441220..194441237hg38UCSC Ensembl
Innerchr1:194441191..194441266hg38UCSC Ensembl
Outerchr1:194441174..194441283hg38UCSC Ensembl
chr1:194410350..194410367hg19UCSC Ensembl
Innerchr1:194410321..194410396hg19UCSC Ensembl
Outerchr1:194410304..194410413hg19UCSC Ensembl
chr1:192676973..192676990hg18UCSC Ensembl
Innerchr1:192677019..192676944hg18UCSC Ensembl
Outerchr1:192676927..192677036hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863799
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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