A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690310



Internal ID15024801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34942080..34963278hg38UCSC Ensembl
Innerchr16:34943080..34962278hg38UCSC Ensembl
Outerchr16:34941080..34964278hg38UCSC Ensembl
chr16:34176451..34197649hg19UCSC Ensembl
Innerchr16:34177451..34196649hg19UCSC Ensembl
Outerchr16:34175451..34198649hg19UCSC Ensembl
chr16:34033952..34055150hg18UCSC Ensembl
Innerchr16:34034952..34054150hg18UCSC Ensembl
Outerchr16:34032952..34056150hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3821199
hg1921199
hg1821199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3337083
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690310
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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