A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8967163



Internal ID14478842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88709379..88709403hg38UCSC Ensembl
Innerchr14:88709385..88709395hg38UCSC Ensembl
Outerchr14:88709361..88709421hg38UCSC Ensembl
chr14:89175723..89175747hg19UCSC Ensembl
Innerchr14:89175729..89175739hg19UCSC Ensembl
Outerchr14:89175705..89175765hg19UCSC Ensembl
chr14:88245476..88245500hg18UCSC Ensembl
Innerchr14:88245492..88245482hg18UCSC Ensembl
Outerchr14:88245458..88245518hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371598
Supporting Variants
SamplesNA19099
Known GenesEML5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8967163
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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