A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447223



Internal ID14947487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3110560..3111458hg38UCSC Ensembl
Innerchr10:3110559..3111459hg38UCSC Ensembl
Outerchr10:3109560..3112458hg38UCSC Ensembl
chr10:3152752..3153650hg19UCSC Ensembl
Innerchr10:3152751..3153651hg19UCSC Ensembl
Outerchr10:3151752..3154650hg19UCSC Ensembl
chr10:3142752..3143650hg18UCSC Ensembl
Innerchr10:3143651..3142751hg18UCSC Ensembl
Outerchr10:3141752..3144650hg18UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688002
SamplesNA19240
Known GenesPFKP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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