A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446733



Internal ID14946997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18453785..18453804hg38UCSC Ensembl
Innerchr12:18453781..18453808hg38UCSC Ensembl
Outerchr12:18453762..18453827hg38UCSC Ensembl
chr12:18606719..18606738hg19UCSC Ensembl
Innerchr12:18606715..18606742hg19UCSC Ensembl
Outerchr12:18606696..18606761hg19UCSC Ensembl
chr12:18497986..18498005hg18UCSC Ensembl
Innerchr12:18498009..18497982hg18UCSC Ensembl
Outerchr12:18497963..18498028hg18UCSC Ensembl
Cytoband12p12.3
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 Variantsessv9655658
SamplesNA12043
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446733
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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