A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333204



Internal ID14833477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30191930..30195228hg38UCSC Ensembl
Innerchr16:30192930..30194228hg38UCSC Ensembl
Outerchr16:30190930..30196228hg38UCSC Ensembl
chr16:30203251..30206549hg19UCSC Ensembl
Innerchr16:30204251..30205549hg19UCSC Ensembl
Outerchr16:30202251..30207549hg19UCSC Ensembl
chr16:30110752..30114050hg18UCSC Ensembl
Innerchr16:30111752..30113050hg18UCSC Ensembl
Outerchr16:30109752..30115050hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689951
SamplesNA19240
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333204
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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