A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411607



Internal ID15258566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68304216..68323014hg38UCSC Ensembl
Innerchr9:68305216..68322014hg38UCSC Ensembl
Outerchr9:68303216..68324014hg38UCSC Ensembl
chr9:70919132..70937930hg19UCSC Ensembl
Innerchr9:70920132..70936930hg19UCSC Ensembl
Outerchr9:70918132..70938930hg19UCSC Ensembl
chr9:70108952..70127750hg18UCSC Ensembl
Innerchr9:70109952..70126750hg18UCSC Ensembl
Outerchr9:70107952..70128750hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3818799
hg1918799
hg1818799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697377
SamplesNA12878
Known GenesFOXD4L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411607
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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