A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691100



Internal ID14681314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11032054..11033652hg38UCSC Ensembl
Innerchr18:11032652..11033054hg38UCSC Ensembl
Outerchr18:11031054..11034652hg38UCSC Ensembl
chr18:11032052..11033650hg19UCSC Ensembl
Innerchr18:11032650..11033052hg19UCSC Ensembl
Outerchr18:11031052..11034650hg19UCSC Ensembl
chr18:11022052..11023650hg18UCSC Ensembl
Innerchr18:11023052..11022650hg18UCSC Ensembl
Outerchr18:11021052..11024650hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431142
Supporting Variants
SamplesNA19238
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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