A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413359



Internal ID14913632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222680439..222680487hg38UCSC Ensembl
Innerchr2:222680462..222680462hg38UCSC Ensembl
Outerchr2:222680414..222680510hg38UCSC Ensembl
chr2:223545158..223545206hg19UCSC Ensembl
Innerchr2:223545181..223545181hg19UCSC Ensembl
Outerchr2:223545133..223545229hg19UCSC Ensembl
chr2:223253402..223253450hg18UCSC Ensembl
Innerchr2:223253425..223253425hg18UCSC Ensembl
Outerchr2:223253377..223253473hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911123, essv8911124, essv8911125
SamplesNA19114, NA18511, NA18510
Known GenesMOGAT1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413359
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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