A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450833



Internal ID14951094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36209137..36217083hg38UCSC Ensembl
Innerchr17:36210137..36216083hg38UCSC Ensembl
Outerchr17:36208139..36218093hg38UCSC Ensembl
chr17:34536539..34544537hg19UCSC Ensembl
Innerchr17:34537539..34543537hg19UCSC Ensembl
Outerchr17:34535539..34545537hg19UCSC Ensembl
chr17:31560652..31568650hg18UCSC Ensembl
Innerchr17:31561652..31567650hg18UCSC Ensembl
Outerchr17:31559652..31569650hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387947
hg197999
hg187999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690732
SamplesNA19239
Known GenesCCL4L1, CCL4L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450833
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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