A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689952



Internal ID15096572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30198930..30207228hg38UCSC Ensembl
Innerchr16:30199930..30206228hg38UCSC Ensembl
Outerchr16:30197930..30208228hg38UCSC Ensembl
chr16:30210251..30218549hg19UCSC Ensembl
Innerchr16:30211251..30217549hg19UCSC Ensembl
Outerchr16:30209251..30219549hg19UCSC Ensembl
chr16:30117752..30126050hg18UCSC Ensembl
Innerchr16:30118752..30125050hg18UCSC Ensembl
Outerchr16:30116752..30127050hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388299
hg198299
hg188299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3444439
Supporting Variants
SamplesNA19240
Known GenesLOC388242, LOC613038, SLX1A-SULT1A3, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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