A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432247



Internal ID15279203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3109773..3111071hg38UCSC Ensembl
Innerchr2:3110071..3110773hg38UCSC Ensembl
Outerchr2:3108773..3112071hg38UCSC Ensembl
chr2:3113545..3114843hg19UCSC Ensembl
Innerchr2:3113843..3114545hg19UCSC Ensembl
Outerchr2:3112545..3115843hg19UCSC Ensembl
chr2:3092552..3093850hg18UCSC Ensembl
Innerchr2:3093552..3092850hg18UCSC Ensembl
Outerchr2:3091552..3094850hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2046e59
Supporting Variantsessv8693623
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432247
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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