A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688083



Internal ID13345066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46416711..46476911hg38UCSC Ensembl
Innerchr10:46417711..46475911hg38UCSC Ensembl
Outerchr10:46415707..46477911hg38UCSC Ensembl
chr10:47072546..47133044hg19UCSC Ensembl
Innerchr10:47073546..47132044hg19UCSC Ensembl
Outerchr10:47071546..47134044hg19UCSC Ensembl
chr10:46492552..46553050hg18UCSC Ensembl
Innerchr10:46493552..46552050hg18UCSC Ensembl
Outerchr10:46491552..46554050hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3860201
hg1960499
hg1860499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3333912
Supporting Variants
SamplesNA12891
Known GenesLINC00842, LOC100996758, NPY4R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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