A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376179



Internal ID15223152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106976616..106976674hg38UCSC Ensembl
Innerchr12:106976630..106976657hg38UCSC Ensembl
Outerchr12:106976575..106976715hg38UCSC Ensembl
chr12:107370394..107370452hg19UCSC Ensembl
Innerchr12:107370408..107370435hg19UCSC Ensembl
Outerchr12:107370353..107370493hg19UCSC Ensembl
chr12:105894524..105894582hg18UCSC Ensembl
Innerchr12:105894565..105894538hg18UCSC Ensembl
Outerchr12:105894483..105894623hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8959139
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376179
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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