A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675289



Internal ID13694176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86215778..86215810hg38UCSC Ensembl
Innerchr3:86215792..86215794hg38UCSC Ensembl
Outerchr3:86215760..86215828hg38UCSC Ensembl
chr3:86264928..86264960hg19UCSC Ensembl
Innerchr3:86264942..86264944hg19UCSC Ensembl
Outerchr3:86264910..86264978hg19UCSC Ensembl
chr3:86347618..86347650hg18UCSC Ensembl
Innerchr3:86347634..86347632hg18UCSC Ensembl
Outerchr3:86347600..86347668hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg38823
hg19823
hg18823
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386736
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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