A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688074



Internal ID14662771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47008246..47149644hg19UCSC Ensembl
Innerchr10:47009246..47148644hg19UCSC Ensembl
Outerchr10:47007246..47150644hg19UCSC Ensembl
chr10:46428252..46569650hg18UCSC Ensembl
Innerchr10:46429252..46568650hg18UCSC Ensembl
Outerchr10:46427252..46570650hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg19141399
hg18141399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3408497
Supporting Variants
SamplesNA19238
Known GenesHNRNPA1P33, LINC00842, LOC100996758, NPY4R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688074
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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