A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348776



Internal ID15195758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31587401..31587420hg38UCSC Ensembl
Innerchr20:31587397..31587424hg38UCSC Ensembl
Outerchr20:31587378..31587443hg38UCSC Ensembl
chr20:30175204..30175223hg19UCSC Ensembl
Innerchr20:30175200..30175227hg19UCSC Ensembl
Outerchr20:30175181..30175246hg19UCSC Ensembl
chr20:29638865..29638884hg18UCSC Ensembl
Innerchr20:29638888..29638861hg18UCSC Ensembl
Outerchr20:29638842..29638907hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9678936
SamplesNA07346
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348776
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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