A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340391



Internal ID15187378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30385453..30385487hg38UCSC Ensembl
Innerchr14:30385466..30385471hg38UCSC Ensembl
Outerchr14:30385435..30385505hg38UCSC Ensembl
chr14:30854659..30854693hg19UCSC Ensembl
Innerchr14:30854672..30854677hg19UCSC Ensembl
Outerchr14:30854641..30854711hg19UCSC Ensembl
chr14:29924410..29924444hg18UCSC Ensembl
Innerchr14:29924428..29924423hg18UCSC Ensembl
Outerchr14:29924392..29924462hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381159
hg191159
hg181159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8964876, essv8964875, essv8964878, essv8964877, essv8964874, essv8964879
SamplesNA12004, NA11993, NA11919, NA19099, NA12043, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340391
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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