A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351863



Internal ID15198844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64868814..64870212hg38UCSC Ensembl
Innerchr2:64869212..64869814hg38UCSC Ensembl
Outerchr2:64867814..64871212hg38UCSC Ensembl
chr2:65095948..65097346hg19UCSC Ensembl
Innerchr2:65096346..65096948hg19UCSC Ensembl
Outerchr2:65094948..65098346hg19UCSC Ensembl
chr2:64949452..64950850hg18UCSC Ensembl
Innerchr2:64950452..64949850hg18UCSC Ensembl
Outerchr2:64948452..64951850hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693673
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351863
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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