A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401154



Internal ID15248117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141599742..141599761hg38UCSC Ensembl
Innerchr3:141599738..141599765hg38UCSC Ensembl
Outerchr3:141599719..141599784hg38UCSC Ensembl
chr3:141318584..141318603hg19UCSC Ensembl
Innerchr3:141318580..141318607hg19UCSC Ensembl
Outerchr3:141318561..141318626hg19UCSC Ensembl
chr3:142801274..142801293hg18UCSC Ensembl
Innerchr3:142801297..142801270hg18UCSC Ensembl
Outerchr3:142801251..142801316hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9611857
SamplesNA11881
Known GenesRASA2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401154
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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