A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304540



Internal ID14804802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88709385..88709386hg38UCSC Ensembl
Innerchr14:88709352..88709419hg38UCSC Ensembl
Outerchr14:88709351..88709420hg38UCSC Ensembl
chr14:89175729..89175730hg19UCSC Ensembl
Innerchr14:89175696..89175763hg19UCSC Ensembl
Outerchr14:89175695..89175764hg19UCSC Ensembl
chr14:88245482..88245483hg18UCSC Ensembl
Innerchr14:88245516..88245449hg18UCSC Ensembl
Outerchr14:88245448..88245517hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38173
hg19173
hg18173
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756488, essv7753377, essv7763277, essv7753951, essv7762292, essv7758825, essv7743924, essv7746877
SamplesNA18489, NA19138, NA18907, NA18912, NA18853, NA19099, NA19129, NA18511
Known GenesEML5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304540
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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