A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441237



Internal ID14941504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36209037..36211235hg38UCSC Ensembl
Innerchr17:36210037..36210235hg38UCSC Ensembl
Outerchr17:36208039..36212235hg38UCSC Ensembl
chr17:34536439..34538637hg19UCSC Ensembl
Innerchr17:34537439..34537637hg19UCSC Ensembl
Outerchr17:34535439..34539637hg19UCSC Ensembl
chr17:31560552..31562750hg18UCSC Ensembl
Innerchr17:31561552..31561750hg18UCSC Ensembl
Outerchr17:31559552..31563750hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690730
SamplesNA19240
Known GenesCCL4L1, CCL4L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441237
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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