A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385876



Internal ID15232846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30385461..30385482hg38UCSC Ensembl
Innerchr14:30385464..30385479hg38UCSC Ensembl
Outerchr14:30385443..30385500hg38UCSC Ensembl
chr14:30854667..30854688hg19UCSC Ensembl
Innerchr14:30854670..30854685hg19UCSC Ensembl
Outerchr14:30854649..30854706hg19UCSC Ensembl
chr14:29924418..29924439hg18UCSC Ensembl
Innerchr14:29924436..29924421hg18UCSC Ensembl
Outerchr14:29924400..29924457hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672913
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385876
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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