A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689496



Internal ID15053718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94937462..94939360hg38UCSC Ensembl
Innerchr14:94938360..94938462hg38UCSC Ensembl
Outerchr14:94936462..94940360hg38UCSC Ensembl
chr14:95403799..95405697hg19UCSC Ensembl
Innerchr14:95404697..95404799hg19UCSC Ensembl
Outerchr14:95402799..95406697hg19UCSC Ensembl
chr14:94473552..94475450hg18UCSC Ensembl
Innerchr14:94474552..94474450hg18UCSC Ensembl
Outerchr14:94472552..94476450hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417448
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689496
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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