A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8642210



Internal ID14802349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8645987..8645987hg38UCSC Ensembl
Innerchr16:8645986..8645988hg38UCSC Ensembl
Outerchr16:8645947..8646007hg38UCSC Ensembl
chr16:8739844..8739844hg19UCSC Ensembl
Innerchr16:8739843..8739845hg19UCSC Ensembl
Outerchr16:8739804..8739864hg19UCSC Ensembl
chr16:8647345..8647345hg18UCSC Ensembl
Innerchr16:8647346..8647344hg18UCSC Ensembl
Outerchr16:8647305..8647365hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3441939
Supporting Variants
Samples
Known GenesMETTL22
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8642210
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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