A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393114



Internal ID14893393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4355858..4355877hg38UCSC Ensembl
Innerchr18:4355854..4355881hg38UCSC Ensembl
Outerchr18:4355835..4355900hg38UCSC Ensembl
chr18:4355858..4355877hg19UCSC Ensembl
Innerchr18:4355854..4355881hg19UCSC Ensembl
Outerchr18:4355835..4355900hg19UCSC Ensembl
chr18:4345858..4345877hg18UCSC Ensembl
Innerchr18:4345881..4345854hg18UCSC Ensembl
Outerchr18:4345835..4345900hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678272
SamplesNA12878
Known GenesDLGAP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393114
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