A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689494



Internal ID15093601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94889362..94890960hg38UCSC Ensembl
Innerchr14:94889960..94890362hg38UCSC Ensembl
Outerchr14:94888362..94891960hg38UCSC Ensembl
chr14:95355699..95357297hg19UCSC Ensembl
Innerchr14:95356297..95356699hg19UCSC Ensembl
Outerchr14:95354699..95358297hg19UCSC Ensembl
chr14:94425452..94427050hg18UCSC Ensembl
Innerchr14:94426452..94426050hg18UCSC Ensembl
Outerchr14:94424452..94428050hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451436
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689494
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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