A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359587



Internal ID15206566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:841322..841724hg38UCSC Ensembl
Innerchr17:841322..841724hg38UCSC Ensembl
Outerchr17:839866..843081hg38UCSC Ensembl
chr17:744562..744964hg19UCSC Ensembl
Innerchr17:744562..744964hg19UCSC Ensembl
Outerchr17:743106..746321hg19UCSC Ensembl
chr17:691312..691714hg18UCSC Ensembl
Innerchr17:691312..691714hg18UCSC Ensembl
Outerchr17:689856..693071hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38403
hg19403
hg18403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651970
SamplesNA19240
Known GenesNXN
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359587
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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