A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349191



Internal ID15196173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44589858..44591356hg38UCSC Ensembl
Innerchr17:44590356..44590858hg38UCSC Ensembl
Outerchr17:44588858..44592356hg38UCSC Ensembl
chr17:42667226..42668724hg19UCSC Ensembl
Innerchr17:42667724..42668226hg19UCSC Ensembl
Outerchr17:42666226..42669724hg19UCSC Ensembl
chr17:40022752..40024250hg18UCSC Ensembl
Innerchr17:40023752..40023250hg18UCSC Ensembl
Outerchr17:40021752..40025250hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759e59
Supporting Variantsessv8690843
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349191
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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