A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689472



Internal ID13700520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19925353..19938351hg38UCSC Ensembl
Innerchr14:19926353..19937351hg38UCSC Ensembl
Outerchr14:19924353..19939351hg38UCSC Ensembl
chr14:20393512..20406510hg19UCSC Ensembl
Innerchr14:20394512..20405510hg19UCSC Ensembl
Outerchr14:20392512..20407510hg19UCSC Ensembl
chr14:19463352..19476350hg18UCSC Ensembl
Innerchr14:19464352..19475350hg18UCSC Ensembl
Outerchr14:19462352..19477350hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3812999
hg1912999
hg1812999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3361380
Supporting Variants
SamplesNA12891
Known GenesOR4K1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689472
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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