A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382741



Internal ID15229712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46458604..46465569hg38UCSC Ensembl
Innerchr10:46459603..46464569hg38UCSC Ensembl
Outerchr10:46457613..46466604hg38UCSC Ensembl
chr10:47083846..47091144hg19UCSC Ensembl
Innerchr10:47084846..47090144hg19UCSC Ensembl
Outerchr10:47082846..47092144hg19UCSC Ensembl
chr10:46503852..46511150hg18UCSC Ensembl
Innerchr10:46504852..46510150hg18UCSC Ensembl
Outerchr10:46502852..46512150hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg386966
hg197299
hg187299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688087
SamplesNA12892
Known GenesLOC100996758, NPY4R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382741
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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