A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348284



Internal ID15195266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8596471..8597769hg38UCSC Ensembl
Innerchr2:8596769..8597471hg38UCSC Ensembl
Outerchr2:8595471..8598769hg38UCSC Ensembl
chr2:8736601..8737899hg19UCSC Ensembl
Innerchr2:8736899..8737601hg19UCSC Ensembl
Outerchr2:8735601..8738899hg19UCSC Ensembl
chr2:8654052..8655350hg18UCSC Ensembl
Innerchr2:8655052..8654350hg18UCSC Ensembl
Outerchr2:8653052..8656350hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2055e59
Supporting Variantsessv8693714
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348284
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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