A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303722



Internal ID15150670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21858060..21858061hg38UCSC Ensembl
Innerchr14:21858028..21858093hg38UCSC Ensembl
Outerchr14:21858027..21858094hg38UCSC Ensembl
chr14:22326237..22326238hg19UCSC Ensembl
Innerchr14:22326205..22326270hg19UCSC Ensembl
Outerchr14:22326204..22326271hg19UCSC Ensembl
chr14:21396077..21396078hg18UCSC Ensembl
Innerchr14:21396110..21396045hg18UCSC Ensembl
Outerchr14:21396044..21396111hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741957, essv7762523, essv7748859, essv7749894, essv7762022
SamplesNA18980, NA18571, NA18949, NA18572, NA18608
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303722
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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