A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308284



Internal ID15155232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201385356..201385357hg38UCSC Ensembl
Innerchr2:201385196..201385517hg38UCSC Ensembl
Outerchr2:201385195..201385518hg38UCSC Ensembl
chr2:202250079..202250080hg19UCSC Ensembl
Innerchr2:202249919..202250240hg19UCSC Ensembl
Outerchr2:202249918..202250241hg19UCSC Ensembl
chr2:201958324..201958325hg18UCSC Ensembl
Innerchr2:201958485..201958164hg18UCSC Ensembl
Outerchr2:201958163..201958486hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838651, essv7836812
SamplesNA19238, NA19239
Known GenesTRAK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308284
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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