A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309655



Internal ID14809920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201777266..201777267hg38UCSC Ensembl
Innerchr2:201777240..201777293hg38UCSC Ensembl
Outerchr2:201777239..201777294hg38UCSC Ensembl
chr2:202641989..202641990hg19UCSC Ensembl
Innerchr2:202641963..202642016hg19UCSC Ensembl
Outerchr2:202641962..202642017hg19UCSC Ensembl
chr2:202350234..202350235hg18UCSC Ensembl
Innerchr2:202350261..202350208hg18UCSC Ensembl
Outerchr2:202350207..202350262hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38123
hg19123
hg18123
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836980, essv7837419
SamplesNA19239, NA19240
Known GenesALS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309655
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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