A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435630



Internal ID14935898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112833561..112833561hg38UCSC Ensembl
Innerchr12:112833560..112833562hg38UCSC Ensembl
Outerchr12:112833521..112833581hg38UCSC Ensembl
chr12:113271366..113271366hg19UCSC Ensembl
Innerchr12:113271365..113271367hg19UCSC Ensembl
Outerchr12:113271326..113271386hg19UCSC Ensembl
chr12:111755749..111755749hg18UCSC Ensembl
Innerchr12:111755750..111755748hg18UCSC Ensembl
Outerchr12:111755709..111755769hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8641026
Samples
Known GenesRPH3A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435630
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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