A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693625



Internal ID15074318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3137473..3138871hg38UCSC Ensembl
Innerchr2:3137871..3138473hg38UCSC Ensembl
Outerchr2:3136473..3139872hg38UCSC Ensembl
chr2:3141245..3142643hg19UCSC Ensembl
Innerchr2:3141643..3142245hg19UCSC Ensembl
Outerchr2:3140245..3143643hg19UCSC Ensembl
chr2:3120252..3121650hg18UCSC Ensembl
Innerchr2:3121252..3120650hg18UCSC Ensembl
Outerchr2:3119252..3122650hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414680
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693625
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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