A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737818



Internal ID14184816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72444829..72444830hg38UCSC Ensembl
Outerchr14:72444665..72444995hg38UCSC Ensembl
Innerchr14:72911537..72911538hg19UCSC Ensembl
Outerchr14:72911373..72911703hg19UCSC Ensembl
Innerchr14:71981291..71981290hg18UCSC Ensembl
Outerchr14:71981126..71981456hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302758
Supporting Variants
SamplesNA18573
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737818
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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