A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359586



Internal ID14859848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46547670..46550168hg38UCSC Ensembl
Innerchr17:46548670..46549168hg38UCSC Ensembl
Outerchr17:46546670..46551168hg38UCSC Ensembl
chr17:44625036..44627534hg19UCSC Ensembl
Innerchr17:44626036..44626534hg19UCSC Ensembl
Outerchr17:44624036..44628534hg19UCSC Ensembl
chr17:41980352..41982850hg18UCSC Ensembl
Innerchr17:41981352..41981850hg18UCSC Ensembl
Outerchr17:41979352..41983850hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690932
SamplesNA12891
Known GenesARL17A, LRRC37A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359586
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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