A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368806



Internal ID15215782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1945908..1947306hg38UCSC Ensembl
Innerchr17:1946306..1946908hg38UCSC Ensembl
Outerchr17:1944908..1948306hg38UCSC Ensembl
chr17:1849202..1850600hg19UCSC Ensembl
Innerchr17:1849600..1850202hg19UCSC Ensembl
Outerchr17:1848202..1851600hg19UCSC Ensembl
chr17:1795952..1797350hg18UCSC Ensembl
Innerchr17:1796952..1796350hg18UCSC Ensembl
Outerchr17:1794952..1798350hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690544
SamplesNA19239
Known GenesRTN4RL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368806
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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