A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732395



Internal ID13883128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39033586..39033587hg38UCSC Ensembl
Outerchr14:39033421..39033753hg38UCSC Ensembl
Innerchr14:39502790..39502791hg19UCSC Ensembl
Outerchr14:39502625..39502957hg19UCSC Ensembl
Innerchr14:38572542..38572541hg18UCSC Ensembl
Outerchr14:38572376..38572708hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302847
Supporting Variants
SamplesNA18519
Known GenesSEC23A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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