A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448478



Internal ID15295427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200324948..200324967hg38UCSC Ensembl
Innerchr2:200324944..200324971hg38UCSC Ensembl
Outerchr2:200324925..200324990hg38UCSC Ensembl
chr2:201189671..201189690hg19UCSC Ensembl
Innerchr2:201189667..201189694hg19UCSC Ensembl
Outerchr2:201189648..201189713hg19UCSC Ensembl
chr2:200897916..200897935hg18UCSC Ensembl
Innerchr2:200897939..200897912hg18UCSC Ensembl
Outerchr2:200897893..200897958hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9606412
SamplesNA12872
Known GenesSPATS2L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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