A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422299



Internal ID14922571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54160652..54160666hg38UCSC Ensembl
Innerchr18:54160627..54160691hg38UCSC Ensembl
Outerchr18:54160613..54160705hg38UCSC Ensembl
chr18:51687022..51687036hg19UCSC Ensembl
Innerchr18:51686997..51687061hg19UCSC Ensembl
Outerchr18:51686983..51687075hg19UCSC Ensembl
chr18:49941020..49941034hg18UCSC Ensembl
Innerchr18:49941059..49940995hg18UCSC Ensembl
Outerchr18:49940981..49941073hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866034
SamplesNA12005
Known GenesMBD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422299
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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