A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673321



Internal ID13712082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258104..55258116hg38UCSC Ensembl
Innerchr16:55258100..55258118hg38UCSC Ensembl
Outerchr16:55258088..55258130hg38UCSC Ensembl
chr16:55292016..55292028hg19UCSC Ensembl
Innerchr16:55292012..55292030hg19UCSC Ensembl
Outerchr16:55292000..55292042hg19UCSC Ensembl
chr16:53849517..53849529hg18UCSC Ensembl
Innerchr16:53849531..53849513hg18UCSC Ensembl
Outerchr16:53849501..53849543hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381373
hg191373
hg181373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3332846
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673321
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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