A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309319



Internal ID15156269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519317..65519318hg38UCSC Ensembl
Innerchr2:65519290..65519345hg38UCSC Ensembl
Outerchr2:65519289..65519346hg38UCSC Ensembl
chr2:65746451..65746452hg19UCSC Ensembl
Innerchr2:65746424..65746479hg19UCSC Ensembl
Outerchr2:65746423..65746480hg19UCSC Ensembl
chr2:65599955..65599956hg18UCSC Ensembl
Innerchr2:65599983..65599928hg18UCSC Ensembl
Outerchr2:65599927..65599984hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381580
hg191580
hg181580
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837391, essv7838623, essv7837102
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309319
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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