A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381404



Internal ID14881679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79042575..79043973hg38UCSC Ensembl
Innerchr17:79042973..79043575hg38UCSC Ensembl
Outerchr17:79041575..79044973hg38UCSC Ensembl
chr17:77038657..77040055hg19UCSC Ensembl
Innerchr17:77039055..77039657hg19UCSC Ensembl
Outerchr17:77037657..77041055hg19UCSC Ensembl
chr17:74550252..74551650hg18UCSC Ensembl
Innerchr17:74551252..74550650hg18UCSC Ensembl
Outerchr17:74549252..74552650hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1825e59
Supporting Variantsessv8691038
SamplesNA19240
Known GenesC1QTNF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381404
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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