A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430044



Internal ID14930314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46352230..46355944hg38UCSC Ensembl
Innerchr17:46353230..46354928hg38UCSC Ensembl
Outerchr17:46351230..46356944hg38UCSC Ensembl
chr17:44429596..44433310hg19UCSC Ensembl
Innerchr17:44430596..44432294hg19UCSC Ensembl
Outerchr17:44428596..44434310hg19UCSC Ensembl
chr17:41785352..41789050hg18UCSC Ensembl
Innerchr17:41786352..41788050hg18UCSC Ensembl
Outerchr17:41784352..41790050hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383715
hg193715
hg183699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690910
SamplesNA12892
Known GenesARL17A, ARL17B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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