A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418527



Internal ID15265485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238479472..238479484hg38UCSC Ensembl
Innerchr2:238479474..238479482hg38UCSC Ensembl
Outerchr2:238479470..238479486hg38UCSC Ensembl
chr2:239388113..239388125hg19UCSC Ensembl
Innerchr2:239388115..239388123hg19UCSC Ensembl
Outerchr2:239388111..239388127hg19UCSC Ensembl
chr2:239052852..239052864hg18UCSC Ensembl
Innerchr2:239052854..239052862hg18UCSC Ensembl
Outerchr2:239052850..239052866hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864104
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418527
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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