A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416142



Internal ID14916415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8646028..8646028hg38UCSC Ensembl
Innerchr16:8646027..8646029hg38UCSC Ensembl
Outerchr16:8645968..8646078hg38UCSC Ensembl
chr16:8739885..8739885hg19UCSC Ensembl
Innerchr16:8739884..8739886hg19UCSC Ensembl
Outerchr16:8739825..8739935hg19UCSC Ensembl
chr16:8647386..8647386hg18UCSC Ensembl
Innerchr16:8647387..8647385hg18UCSC Ensembl
Outerchr16:8647326..8647436hg18UCSC 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 Variantsessv8818652
SamplesNA12878
Known GenesMETTL22
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416142
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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