A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673334



Internal ID13678709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69361931..69361947hg38UCSC Ensembl
Innerchr16:69361929..69361947hg38UCSC Ensembl
Outerchr16:69361915..69361963hg38UCSC Ensembl
chr16:69395834..69395850hg19UCSC Ensembl
Innerchr16:69395832..69395850hg19UCSC Ensembl
Outerchr16:69395818..69395866hg19UCSC Ensembl
chr16:67953335..67953351hg18UCSC Ensembl
Innerchr16:67953351..67953333hg18UCSC Ensembl
Outerchr16:67953319..67953367hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329158
Supporting Variants
SamplesNA12878
Known GenesTERF2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673334
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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