A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399187



Internal ID15246150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961564..69961941hg38UCSC Ensembl
Innerchr17:69961578..69961925hg38UCSC Ensembl
Outerchr17:69961548..69961955hg38UCSC Ensembl
chr17:67957705..67958082hg19UCSC Ensembl
Innerchr17:67957719..67958066hg19UCSC Ensembl
Outerchr17:67957689..67958096hg19UCSC Ensembl
chr17:65469300..65469677hg18UCSC Ensembl
Innerchr17:65469314..65469661hg18UCSC Ensembl
Outerchr17:65469284..65469691hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670764, essv8670766, essv8670765, essv8670767, essv8670768
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399187
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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