A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673573



Internal ID14723027
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 StatusS
Merged Variantsesv3345835
Supporting Variants
SamplesNA19239
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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