A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446949



Internal ID15293899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34340134..34340144hg38UCSC Ensembl
Innerchr20:34340114..34340164hg38UCSC Ensembl
Outerchr20:34340104..34340174hg38UCSC Ensembl
chr20:32927940..32927950hg19UCSC Ensembl
Innerchr20:32927920..32927970hg19UCSC Ensembl
Outerchr20:32927910..32927980hg19UCSC Ensembl
chr20:32391601..32391611hg18UCSC Ensembl
Innerchr20:32391631..32391581hg18UCSC Ensembl
Outerchr20:32391571..32391641hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866160
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446949
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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