A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401092



Internal ID14901369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47586487..47589585hg38UCSC Ensembl
Innerchr17:47587487..47588585hg38UCSC Ensembl
Outerchr17:47585487..47590585hg38UCSC Ensembl
chr17:45663853..45666951hg19UCSC Ensembl
Innerchr17:45664853..45665951hg19UCSC Ensembl
Outerchr17:45662853..45667951hg19UCSC Ensembl
chr17:43018852..43021950hg18UCSC Ensembl
Innerchr17:43019852..43020950hg18UCSC Ensembl
Outerchr17:43017852..43022950hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690946
SamplesNA19238
Known GenesNPEPPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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