A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865728



Internal ID13318032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47691800..47691829hg38UCSC Ensembl
Innerchr14:47691802..47691827hg38UCSC Ensembl
Outerchr14:47691798..47691831hg38UCSC Ensembl
chr14:48161003..48161032hg19UCSC Ensembl
Innerchr14:48161005..48161030hg19UCSC Ensembl
Outerchr14:48161001..48161034hg19UCSC Ensembl
chr14:47230753..47230782hg18UCSC Ensembl
Innerchr14:47230755..47230780hg18UCSC Ensembl
Outerchr14:47230751..47230784hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348175
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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