A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446750



Internal ID14947014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478836..55478921hg38UCSC Ensembl
Innerchr18:55478836..55478921hg38UCSC Ensembl
Outerchr18:55478751..55479006hg38UCSC Ensembl
chr18:53146067..53146152hg19UCSC Ensembl
Innerchr18:53146067..53146152hg19UCSC Ensembl
Outerchr18:53145982..53146237hg19UCSC Ensembl
chr18:51297065..51297150hg18UCSC Ensembl
Innerchr18:51297150..51297065hg18UCSC Ensembl
Outerchr18:51296980..51297235hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38109
hg19109
hg18109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673606
SamplesNA19238
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446750
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer