A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689950



Internal ID14709151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30190630..30222128hg38UCSC Ensembl
Innerchr16:30191630..30221128hg38UCSC Ensembl
Outerchr16:30189630..30223128hg38UCSC Ensembl
chr16:30201951..30233449hg19UCSC Ensembl
Innerchr16:30202951..30232449hg19UCSC Ensembl
Outerchr16:30200951..30234449hg19UCSC Ensembl
chr16:30109452..30140950hg18UCSC Ensembl
Innerchr16:30110452..30139950hg18UCSC Ensembl
Outerchr16:30108452..30141950hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3831499
hg1931499
hg1831499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3388213
Supporting Variants
SamplesNA19239
Known GenesBOLA2, BOLA2B, LOC388242, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689950
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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