A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740854



Internal ID15084354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81518893..81518893hg38UCSC Ensembl
Innerchr16:81518892..81518894hg38UCSC Ensembl
Outerchr16:81518843..81518943hg38UCSC Ensembl
chr16:81552498..81552498hg19UCSC Ensembl
Innerchr16:81552497..81552499hg19UCSC Ensembl
Outerchr16:81552448..81552548hg19UCSC Ensembl
chr16:80109999..80109999hg18UCSC Ensembl
Innerchr16:80110000..80109998hg18UCSC Ensembl
Outerchr16:80109949..80110049hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381703
hg191703
hg181703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3422126
Supporting Variants
SamplesNA19240
Known GenesCMIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740854
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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