A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370403



Internal ID15217379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66826741..66826772hg38UCSC Ensembl
Innerchr12:66826731..66826782hg38UCSC Ensembl
Outerchr12:66826700..66826813hg38UCSC Ensembl
chr12:67220521..67220552hg19UCSC Ensembl
Innerchr12:67220511..67220562hg19UCSC Ensembl
Outerchr12:67220480..67220593hg19UCSC Ensembl
chr12:65506788..65506819hg18UCSC Ensembl
Innerchr12:65506829..65506778hg18UCSC Ensembl
Outerchr12:65506747..65506860hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672454, essv8672455
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370403
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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