A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302965



Internal ID14803227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40541275..40552325hg38UCSC Ensembl
Innerchr17:40541375..40552225hg38UCSC Ensembl
Outerchr17:40541175..40552425hg38UCSC Ensembl
chr17:38697527..38708577hg19UCSC Ensembl
Innerchr17:38697627..38708477hg19UCSC Ensembl
Outerchr17:38697427..38708677hg19UCSC Ensembl
chr17:35951053..35962103hg18UCSC Ensembl
Innerchr17:35951153..35962003hg18UCSC Ensembl
Outerchr17:35950953..35962203hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811051
hg1911051
hg1811051
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732494
SamplesNA18550
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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