A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740847



Internal ID15084296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34163470..34163470hg38UCSC Ensembl
Innerchr16:34163469..34163471hg38UCSC Ensembl
Outerchr16:34163420..34163520hg38UCSC Ensembl
chr16:33965937..33965937hg19UCSC Ensembl
Innerchr16:33965936..33965938hg19UCSC Ensembl
Outerchr16:33965887..33965987hg19UCSC Ensembl
chr16:33873438..33873438hg18UCSC Ensembl
Innerchr16:33873439..33873437hg18UCSC Ensembl
Outerchr16:33873388..33873488hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3427803
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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