A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302963



Internal ID14803225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64115019..64288399hg38UCSC Ensembl
Innerchr2:64115119..64288299hg38UCSC Ensembl
Outerchr2:64114919..64288499hg38UCSC Ensembl
chr2:64342153..64515533hg19UCSC Ensembl
Innerchr2:64342253..64515433hg19UCSC Ensembl
Outerchr2:64342053..64515633hg19UCSC Ensembl
chr2:64195657..64369037hg18UCSC Ensembl
Innerchr2:64195757..64368937hg18UCSC Ensembl
Outerchr2:64195557..64369137hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38173381
hg19173381
hg18173381
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735324
SamplesNA18502
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302963
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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