A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329321



Internal ID15176308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28859820..28859839hg38UCSC Ensembl
Innerchr14:28859822..28859837hg38UCSC Ensembl
Outerchr14:28859818..28859841hg38UCSC Ensembl
chr14:29329026..29329045hg19UCSC Ensembl
Innerchr14:29329028..29329043hg19UCSC Ensembl
Outerchr14:29329024..29329047hg19UCSC Ensembl
chr14:28398777..28398796hg18UCSC Ensembl
Innerchr14:28398779..28398794hg18UCSC Ensembl
Outerchr14:28398775..28398798hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865715
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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