A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688076



Internal ID14731112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47008246..47150044hg19UCSC Ensembl
Innerchr10:47009246..47149044hg19UCSC Ensembl
Outerchr10:47007246..47151044hg19UCSC Ensembl
chr10:46428252..46570050hg18UCSC Ensembl
Innerchr10:46429252..46569050hg18UCSC Ensembl
Outerchr10:46427252..46571050hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19141799
hg18141799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3345301
Supporting Variants
SamplesNA19240
Known GenesHNRNPA1P33, LINC00842, LOC100996758, NPY4R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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