A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689834



Internal ID15095965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1339750..1340848hg38UCSC Ensembl
Innerchr16:1339848..1340750hg38UCSC Ensembl
Outerchr16:1338750..1341848hg38UCSC Ensembl
chr16:1389751..1390849hg19UCSC Ensembl
Innerchr16:1389849..1390751hg19UCSC Ensembl
Outerchr16:1388751..1391849hg19UCSC Ensembl
chr16:1329752..1330850hg18UCSC Ensembl
Innerchr16:1330752..1329850hg18UCSC Ensembl
Outerchr16:1328752..1331850hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392007
Supporting Variants
SamplesNA19240
Known GenesBAIAP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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