A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426153



Internal ID15273110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138725207..138725226hg38UCSC Ensembl
Innerchr3:138725203..138725230hg38UCSC Ensembl
Outerchr3:138725184..138725249hg38UCSC Ensembl
chr3:138444049..138444068hg19UCSC Ensembl
Innerchr3:138444045..138444072hg19UCSC Ensembl
Outerchr3:138444026..138444091hg19UCSC Ensembl
chr3:139926739..139926758hg18UCSC Ensembl
Innerchr3:139926762..139926735hg18UCSC Ensembl
Outerchr3:139926716..139926781hg18UCSC Ensembl
Cytoband3q22.3
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 Variantsessv9611802
SamplesNA19141
Known GenesPIK3CB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426153
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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