A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409514



Internal ID15256475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123510452..123514450hg38UCSC Ensembl
Innerchr12:123511452..123513450hg38UCSC Ensembl
Outerchr12:123509452..123515450hg38UCSC Ensembl
chr12:123994999..123998997hg19UCSC Ensembl
Innerchr12:123995999..123997997hg19UCSC Ensembl
Outerchr12:123993999..123999997hg19UCSC Ensembl
chr12:122560952..122564950hg18UCSC Ensembl
Innerchr12:122561952..122563950hg18UCSC Ensembl
Outerchr12:122559952..122565950hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688577
SamplesNA19240
Known GenesRILPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409514
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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