A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346765



Internal ID15193747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239467221..239468319hg38UCSC Ensembl
Innerchr2:239467319..239468221hg38UCSC Ensembl
Outerchr2:239466221..239469319hg38UCSC Ensembl
chr2:240388915..240390013hg19UCSC Ensembl
Innerchr2:240389013..240389915hg19UCSC Ensembl
Outerchr2:240387915..240391013hg19UCSC Ensembl
chr2:240053852..240054950hg18UCSC Ensembl
Innerchr2:240054852..240053950hg18UCSC Ensembl
Outerchr2:240052852..240055950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2375e59
Supporting Variantsessv8693555
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346765
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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