A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415246



Internal ID14915519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3669113..3669132hg38UCSC Ensembl
Innerchr18:3669109..3669136hg38UCSC Ensembl
Outerchr18:3669090..3669155hg38UCSC Ensembl
chr18:3669113..3669132hg19UCSC Ensembl
Innerchr18:3669109..3669136hg19UCSC Ensembl
Outerchr18:3669090..3669155hg19UCSC Ensembl
chr18:3659113..3659132hg18UCSC Ensembl
Innerchr18:3659136..3659109hg18UCSC Ensembl
Outerchr18:3659090..3659155hg18UCSC 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 Variantsessv9675413, essv9675424
SamplesNA12249, NA12873
Known GenesDLGAP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415246
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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