A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374119



Internal ID14874381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36190073..36197466hg38UCSC Ensembl
Innerchr17:36191073..36196464hg38UCSC Ensembl
Outerchr17:36189073..36198466hg38UCSC Ensembl
chr17:34619039..34626437hg19UCSC Ensembl
Innerchr17:34620039..34625437hg19UCSC Ensembl
Outerchr17:34618039..34627437hg19UCSC Ensembl
chr17:31643152..31650550hg18UCSC Ensembl
Innerchr17:31644152..31649550hg18UCSC Ensembl
Outerchr17:31642152..31651550hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387394
hg197399
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690758
SamplesNA19239
Known GenesCCL3L1, CCL3L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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