A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303255



Internal ID15150203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65079782..65079783hg38UCSC Ensembl
Innerchr17:65079760..65079805hg38UCSC Ensembl
Outerchr17:65079759..65079806hg38UCSC Ensembl
chr17:63075900..63075901hg19UCSC Ensembl
Innerchr17:63075878..63075923hg19UCSC Ensembl
Outerchr17:63075877..63075924hg19UCSC Ensembl
chr17:60506362..60506363hg18UCSC Ensembl
Innerchr17:60506385..60506340hg18UCSC Ensembl
Outerchr17:60506339..60506386hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383676
hg193676
hg183676
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764528
SamplesNA11840
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303255
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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