A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377835



Internal ID15224808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43091270..43091278hg38UCSC Ensembl
Innerchr3:43091255..43091293hg38UCSC Ensembl
Outerchr3:43091247..43091301hg38UCSC Ensembl
chr3:43132762..43132770hg19UCSC Ensembl
Innerchr3:43132747..43132785hg19UCSC Ensembl
Outerchr3:43132739..43132793hg19UCSC Ensembl
chr3:43107766..43107774hg18UCSC Ensembl
Innerchr3:43107789..43107751hg18UCSC Ensembl
Outerchr3:43107743..43107797hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864126
SamplesNA12005
Known GenesPOMGNT2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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