A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763277



Internal ID14066039
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 StatusS
Merged Variantsesv3304540
Supporting Variants
SamplesNA18907
Known GenesEML5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763277
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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