A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689932



Internal ID14709033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29451230..29455328hg38UCSC Ensembl
Innerchr16:29452230..29454328hg38UCSC Ensembl
Outerchr16:29450230..29456328hg38UCSC Ensembl
chr16:29462551..29466649hg19UCSC Ensembl
Innerchr16:29463551..29465649hg19UCSC Ensembl
Outerchr16:29461551..29467649hg19UCSC Ensembl
chr16:29370052..29374150hg18UCSC Ensembl
Innerchr16:29371052..29373150hg18UCSC Ensembl
Outerchr16:29369052..29375150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359364
Supporting Variants
SamplesNA19239
Known GenesBOLA2, BOLA2B, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689932
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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