A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370092



Internal ID15217068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:22744398..22763679hg38UCSC Ensembl
Innerchr17:22745398..22762696hg38UCSC Ensembl
Outerchr17:22743398..22763679hg38UCSC Ensembl
chr17:22243725..22263006hg19UCSC Ensembl
Innerchr17:22244725..22262023hg19UCSC Ensembl
Outerchr17:22242725..22263006hg19UCSC Ensembl
chr17:22167852..22187150hg18UCSC Ensembl
Innerchr17:22168852..22186150hg18UCSC Ensembl
Outerchr17:22166852..22188150hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg3819282
hg1919282
hg1819299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1720e59
Supporting Variantsessv8690698
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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