A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308328



Internal ID15155276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62046486..62046487hg38UCSC Ensembl
Innerchr18:62046468..62046505hg38UCSC Ensembl
Outerchr18:62046467..62046506hg38UCSC Ensembl
chr18:59713719..59713720hg19UCSC Ensembl
Innerchr18:59713701..59713738hg19UCSC Ensembl
Outerchr18:59713700..59713739hg19UCSC Ensembl
chr18:57864699..57864700hg18UCSC Ensembl
Innerchr18:57864718..57864681hg18UCSC Ensembl
Outerchr18:57864680..57864719hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841069, essv7843217, essv7842768, essv7840046, essv7842272
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesPIGN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308328
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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