A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434842



Internal ID15281796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228781582..228783080hg38UCSC Ensembl
Innerchr1:228782080..228782582hg38UCSC Ensembl
Outerchr1:228780582..228784080hg38UCSC Ensembl
chr1:228917329..228918827hg19UCSC Ensembl
Innerchr1:228917827..228918329hg19UCSC Ensembl
Outerchr1:228916329..228919827hg19UCSC Ensembl
chr1:226983952..226985450hg18UCSC Ensembl
Innerchr1:226984952..226984450hg18UCSC Ensembl
Outerchr1:226982952..226986450hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv296e59
Supporting Variantsessv8692149
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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