A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441758



Internal ID15288711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:105229570..105240968hg38UCSC Ensembl
Innerchr14:105230570..105239968hg38UCSC Ensembl
Outerchr14:105228570..105241968hg38UCSC Ensembl
chr14:105695907..105707305hg19UCSC Ensembl
Innerchr14:105696907..105706305hg19UCSC Ensembl
Outerchr14:105694907..105708305hg19UCSC Ensembl
chr14:104766952..104778350hg18UCSC Ensembl
Innerchr14:104767952..104777350hg18UCSC Ensembl
Outerchr14:104765952..104779350hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3811399
hg1911399
hg1811399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1339e59
Supporting Variantsessv8689040
SamplesNA19238
Known GenesBRF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441758
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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