A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689495



Internal ID15053627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94889362..94891660hg38UCSC Ensembl
Innerchr14:94890362..94890660hg38UCSC Ensembl
Outerchr14:94888362..94892660hg38UCSC Ensembl
chr14:95355699..95357997hg19UCSC Ensembl
Innerchr14:95356699..95356997hg19UCSC Ensembl
Outerchr14:95354699..95358997hg19UCSC Ensembl
chr14:94425452..94427750hg18UCSC Ensembl
Innerchr14:94426452..94426750hg18UCSC Ensembl
Outerchr14:94424452..94428750hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392882
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689495
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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