A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9614057



Internal ID13174527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196874216..196874235hg38UCSC Ensembl
Innerchr3:196874212..196874239hg38UCSC Ensembl
Outerchr3:196874193..196874258hg38UCSC Ensembl
chr3:196601087..196601106hg19UCSC Ensembl
Innerchr3:196601083..196601110hg19UCSC Ensembl
Outerchr3:196601064..196601129hg19UCSC Ensembl
chr3:198085484..198085503hg18UCSC Ensembl
Innerchr3:198085507..198085480hg18UCSC Ensembl
Outerchr3:198085461..198085526hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342001
Supporting Variants
SamplesNA11881
Known GenesSENP5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9614057
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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