A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400637



Internal ID14900914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46193709..46225107hg38UCSC Ensembl
Innerchr17:46194709..46224107hg38UCSC Ensembl
Outerchr17:46192709..46226107hg38UCSC Ensembl
chr17:44271075..44302473hg19UCSC Ensembl
Innerchr17:44272075..44301473hg19UCSC Ensembl
Outerchr17:44270075..44303473hg19UCSC Ensembl
chr17:41626852..41658250hg18UCSC Ensembl
Innerchr17:41627852..41657250hg18UCSC Ensembl
Outerchr17:41625852..41659250hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831399
hg1931399
hg1831399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690889
SamplesNA12891
Known GenesKANSL1, KANSL1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400637
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