A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345835



Internal ID14846102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4355870..4355881hg38UCSC Ensembl
Innerchr18:4355860..4355888hg38UCSC Ensembl
Outerchr18:4355849..4355899hg38UCSC Ensembl
chr18:4355870..4355881hg19UCSC Ensembl
Innerchr18:4355860..4355888hg19UCSC Ensembl
Outerchr18:4355849..4355899hg19UCSC Ensembl
chr18:4345870..4345881hg18UCSC Ensembl
Innerchr18:4345888..4345860hg18UCSC Ensembl
Outerchr18:4345849..4345899hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673573, essv8673576, essv8673577, essv8673571, essv8673574, essv8673572
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345835
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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