A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426770



Internal ID15273727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74363253..74365651hg38UCSC Ensembl
Innerchr16:74364253..74364651hg38UCSC Ensembl
Outerchr16:74362253..74366651hg38UCSC Ensembl
chr16:74397151..74399549hg19UCSC Ensembl
Innerchr16:74398151..74398549hg19UCSC Ensembl
Outerchr16:74396151..74400549hg19UCSC Ensembl
chr16:72954652..72957050hg18UCSC Ensembl
Innerchr16:72955652..72956050hg18UCSC Ensembl
Outerchr16:72953652..72958050hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690428
SamplesNA19239
Known GenesLOC283922
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426770
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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