A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333988



Internal ID15180975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65499927..65500274hg38UCSC Ensembl
Innerchr17:65499927..65500274hg38UCSC Ensembl
Outerchr17:65499890..65500640hg38UCSC Ensembl
chr17:63496045..63496392hg19UCSC Ensembl
Innerchr17:63496045..63496392hg19UCSC Ensembl
Outerchr17:63496008..63496758hg19UCSC Ensembl
chr17:60926507..60926854hg18UCSC Ensembl
Innerchr17:60926507..60926854hg18UCSC Ensembl
Outerchr17:60926470..60927220hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651969
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333988
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer