A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306959



Internal ID14807221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200714225..200714226hg38UCSC Ensembl
Innerchr2:200714198..200714253hg38UCSC Ensembl
Outerchr2:200714197..200714254hg38UCSC Ensembl
chr2:201578948..201578949hg19UCSC Ensembl
Innerchr2:201578921..201578976hg19UCSC Ensembl
Outerchr2:201578920..201578977hg19UCSC Ensembl
chr2:201287193..201287194hg18UCSC Ensembl
Innerchr2:201287221..201287166hg18UCSC Ensembl
Outerchr2:201287165..201287222hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752100, essv7746230, essv7754189, essv7748291, essv7748129, essv7748592, essv7744950, essv7746610, essv7751873, essv7753399, essv7760325, essv7754854
SamplesNA18947, NA18526, NA18558, NA18537, NA18573, NA19099, NA18523, NA18858, NA18542, NA18952, NA19116, NA18552
Known GenesAOX2P, LOC100507140
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306959
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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