A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335033



Internal ID15182023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4344170..4344512hg38UCSC Ensembl
Innerchr16:4344170..4344512hg38UCSC Ensembl
Outerchr16:4343480..4345835hg38UCSC Ensembl
chr16:4394171..4394513hg19UCSC Ensembl
Innerchr16:4394171..4394513hg19UCSC Ensembl
Outerchr16:4393481..4395836hg19UCSC Ensembl
chr16:4334172..4334514hg18UCSC Ensembl
Innerchr16:4334172..4334514hg18UCSC Ensembl
Outerchr16:4333482..4335837hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38343
hg19343
hg18343
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651937
SamplesNA19240
Known GenesCORO7-PAM16, PAM16
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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