A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689951



Internal ID14749942
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 StatusS
Merged Variantsesv3333204
Supporting Variants
SamplesNA19240
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689951
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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