A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333423



Internal ID14833696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36196240..36197637hg38UCSC Ensembl
Innerchr17:36196638..36197240hg38UCSC Ensembl
Outerchr17:36195240..36198637hg38UCSC Ensembl
chr17:34523639..34525037hg19UCSC Ensembl
Innerchr17:34524037..34524639hg19UCSC Ensembl
Outerchr17:34522639..34526037hg19UCSC Ensembl
chr17:31547752..31549150hg18UCSC Ensembl
Innerchr17:31548752..31548150hg18UCSC Ensembl
Outerchr17:31546752..31550150hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381398
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690727
SamplesNA19240
Known GenesCCL3L1, CCL3L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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