A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306542



Internal ID15153490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1167330..1167331hg38UCSC Ensembl
Innerchr20:1167283..1167378hg38UCSC Ensembl
Outerchr20:1167282..1167379hg38UCSC Ensembl
chr20:1147974..1147975hg19UCSC Ensembl
Innerchr20:1147927..1148022hg19UCSC Ensembl
Outerchr20:1147926..1148023hg19UCSC Ensembl
chr20:1095974..1095975hg18UCSC Ensembl
Innerchr20:1096022..1095927hg18UCSC Ensembl
Outerchr20:1095926..1096023hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746813, essv7746483, essv7749855
SamplesNA19138, NA18858, NA19093
Known GenesPSMF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306542
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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