A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451062



Internal ID15298009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93246053..93246851hg38UCSC Ensembl
Innerchr14:93246052..93246852hg38UCSC Ensembl
Outerchr14:93245053..93247851hg38UCSC Ensembl
chr14:93712399..93713197hg19UCSC Ensembl
Innerchr14:93712398..93713198hg19UCSC Ensembl
Outerchr14:93711399..93714197hg19UCSC Ensembl
chr14:92782152..92782950hg18UCSC Ensembl
Innerchr14:92782951..92782151hg18UCSC Ensembl
Outerchr14:92781152..92783950hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689493
SamplesNA12891
Known GenesBTBD7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451062
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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