A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343221



Internal ID14843489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094702..189094709hg38UCSC Ensembl
Innerchr2:189094693..189094716hg38UCSC Ensembl
Outerchr2:189094686..189094723hg38UCSC Ensembl
chr2:189959428..189959435hg19UCSC Ensembl
Innerchr2:189959419..189959442hg19UCSC Ensembl
Outerchr2:189959412..189959449hg19UCSC Ensembl
chr2:189667673..189667680hg18UCSC Ensembl
Innerchr2:189667687..189667664hg18UCSC Ensembl
Outerchr2:189667657..189667694hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674602, essv8674603, essv8674606, essv8674607, essv8674605, essv8674604
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343221
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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