A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349412



Internal ID15196394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57366823..57368421hg38UCSC Ensembl
Innerchr18:57367421..57367823hg38UCSC Ensembl
Outerchr18:57365823..57369421hg38UCSC Ensembl
chr18:55034054..55035652hg19UCSC Ensembl
Innerchr18:55034652..55035054hg19UCSC Ensembl
Outerchr18:55033054..55036652hg19UCSC Ensembl
chr18:53185052..53186650hg18UCSC Ensembl
Innerchr18:53186052..53185650hg18UCSC Ensembl
Outerchr18:53184052..53187650hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691235
SamplesNA19238
Known GenesST8SIA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349412
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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