A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441939



Internal ID14942206
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 StatusM
Merged Variants
Supporting Variantsessv8642210
Samples
Known GenesMETTL22
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441939
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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