A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749855



Internal ID14810384
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 StatusS
Merged Variantsesv3306542
Supporting Variants
SamplesNA19093
Known GenesPSMF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749855
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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