A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371598



Internal ID14871857
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 StatusM
Merged Variants
Supporting Variantsessv8967168, essv8967171, essv8967163, essv8967166, essv8967165, essv8967169, essv8967167, essv8967164
SamplesNA18489, NA19138, NA18907, NA18912, NA18853, NA19099, NA19129, NA18511
Known GenesEML5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371598
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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