A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8974918



Internal ID14809995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1167326..1167368hg38UCSC Ensembl
Innerchr20:1167338..1167354hg38UCSC Ensembl
Outerchr20:1167296..1167396hg38UCSC Ensembl
chr20:1147970..1148012hg19UCSC Ensembl
Innerchr20:1147982..1147998hg19UCSC Ensembl
Outerchr20:1147940..1148040hg19UCSC Ensembl
chr20:1095970..1096012hg18UCSC Ensembl
Innerchr20:1095998..1095982hg18UCSC Ensembl
Outerchr20:1095940..1096040hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363197
Supporting Variants
SamplesNA19093
Known GenesPSMF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8974918
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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