A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689935



Internal ID15055702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29456430..29476328hg38UCSC Ensembl
Innerchr16:29457430..29475328hg38UCSC Ensembl
Outerchr16:29455430..29477328hg38UCSC Ensembl
chr16:29467751..29487649hg19UCSC Ensembl
Innerchr16:29468751..29486649hg19UCSC Ensembl
Outerchr16:29466751..29488649hg19UCSC Ensembl
chr16:29375252..29395150hg18UCSC Ensembl
Innerchr16:29376252..29394150hg18UCSC Ensembl
Outerchr16:29374252..29396150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3819899
hg1919899
hg1819899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3392583
Supporting Variants
SamplesNA19239
Known GenesLOC388242, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689935
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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