A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731092



Internal ID13700547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39033512..39033649hg38UCSC Ensembl
Innerchr14:39033580..39033581hg38UCSC Ensembl
Outerchr14:39033412..39033749hg38UCSC Ensembl
chr14:39502716..39502853hg19UCSC Ensembl
Innerchr14:39502784..39502785hg19UCSC Ensembl
Outerchr14:39502616..39502953hg19UCSC Ensembl
chr14:38572467..38572604hg18UCSC Ensembl
Innerchr14:38572536..38572535hg18UCSC Ensembl
Outerchr14:38572367..38572704hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302505
Supporting Variants
SamplesNA12891
Known GenesSEC23A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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