A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397133



Internal ID14897410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36194740..36195938hg38UCSC Ensembl
Innerchr17:36194938..36195740hg38UCSC Ensembl
Outerchr17:36193740..36196938hg38UCSC Ensembl
chr17:34522139..34523337hg19UCSC Ensembl
Innerchr17:34522337..34523139hg19UCSC Ensembl
Outerchr17:34521139..34524337hg19UCSC Ensembl
chr17:31546252..31547450hg18UCSC Ensembl
Innerchr17:31547252..31546450hg18UCSC Ensembl
Outerchr17:31545252..31548450hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690726
SamplesNA19239
Known GenesCCL3L1, CCL3L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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