A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349337



Internal ID14849602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10930000..10930000hg38UCSC Ensembl
Innerchr18:10929999..10930001hg38UCSC Ensembl
Outerchr18:10929950..10930050hg38UCSC Ensembl
chr18:10929998..10929998hg19UCSC Ensembl
Innerchr18:10929997..10929999hg19UCSC Ensembl
Outerchr18:10929948..10930048hg19UCSC Ensembl
chr18:10919998..10919998hg18UCSC Ensembl
Innerchr18:10919999..10919997hg18UCSC Ensembl
Outerchr18:10919948..10920048hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38551
hg19551
hg18551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740883
SamplesNA19240
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349337
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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