A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7836747



Internal ID15037770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258103..55258104hg38UCSC Ensembl
Innerchr16:55258076..55258131hg38UCSC Ensembl
Outerchr16:55258075..55258132hg38UCSC Ensembl
chr16:55292015..55292016hg19UCSC Ensembl
Innerchr16:55291988..55292043hg19UCSC Ensembl
Outerchr16:55291987..55292044hg19UCSC Ensembl
chr16:53849516..53849517hg18UCSC Ensembl
Innerchr16:53849544..53849489hg18UCSC Ensembl
Outerchr16:53849488..53849545hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381379
hg191379
hg181379
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308551
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7836747
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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