A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346284



Internal ID14815712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105048484..105048484hg38UCSC Ensembl
Innerchr2:105048483..105048485hg38UCSC Ensembl
Outerchr2:105048434..105048534hg38UCSC Ensembl
chr2:105664942..105664942hg19UCSC Ensembl
Innerchr2:105664941..105664943hg19UCSC Ensembl
Outerchr2:105664892..105664992hg19UCSC Ensembl
chr2:105031374..105031374hg18UCSC Ensembl
Innerchr2:105031375..105031373hg18UCSC Ensembl
Outerchr2:105031324..105031424hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741028
SamplesNA19240
Known GenesMRPS9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346284
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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