A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303489



Internal ID14803751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10863706..10863707hg38UCSC Ensembl
Innerchr18:10863665..10863748hg38UCSC Ensembl
Outerchr18:10863664..10863749hg38UCSC Ensembl
chr18:10863704..10863705hg19UCSC Ensembl
Innerchr18:10863663..10863746hg19UCSC Ensembl
Outerchr18:10863662..10863747hg19UCSC Ensembl
chr18:10853704..10853705hg18UCSC Ensembl
Innerchr18:10853746..10853663hg18UCSC Ensembl
Outerchr18:10853662..10853747hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758851, essv7753394
SamplesNA19129, NA19099
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303489
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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