A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8964889



Internal ID14629727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30712055..30712079hg38UCSC Ensembl
Innerchr14:30712061..30712071hg38UCSC Ensembl
Outerchr14:30712037..30712095hg38UCSC Ensembl
chr14:31181261..31181285hg19UCSC Ensembl
Innerchr14:31181267..31181277hg19UCSC Ensembl
Outerchr14:31181243..31181301hg19UCSC Ensembl
chr14:30251012..30251036hg18UCSC Ensembl
Innerchr14:30251028..30251018hg18UCSC Ensembl
Outerchr14:30250994..30251052hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327410
Supporting Variants
SamplesNA18960
Known GenesSCFD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8964889
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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