A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865769



Internal ID12971376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80893510..80893520hg38UCSC Ensembl
Innerchr14:80893512..80893518hg38UCSC Ensembl
Outerchr14:80893508..80893522hg38UCSC Ensembl
chr14:81359854..81359864hg19UCSC Ensembl
Innerchr14:81359856..81359862hg19UCSC Ensembl
Outerchr14:81359852..81359866hg19UCSC Ensembl
chr14:80429607..80429617hg18UCSC Ensembl
Innerchr14:80429609..80429615hg18UCSC Ensembl
Outerchr14:80429605..80429619hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3414044
Supporting Variants
SamplesNA12005
Known GenesCEP128
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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