A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865914



Internal ID13318124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55811212..55811222hg38UCSC Ensembl
Innerchr16:55811214..55811220hg38UCSC Ensembl
Outerchr16:55811210..55811224hg38UCSC Ensembl
chr16:55845124..55845134hg19UCSC Ensembl
Innerchr16:55845126..55845132hg19UCSC Ensembl
Outerchr16:55845122..55845136hg19UCSC Ensembl
chr16:54402625..54402635hg18UCSC Ensembl
Innerchr16:54402627..54402633hg18UCSC Ensembl
Outerchr16:54402623..54402637hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336851
Supporting Variants
SamplesNA12005
Known GenesCES1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865914
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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