A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370975



Internal ID14871234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57952490..57952520hg38UCSC Ensembl
Innerchr16:57952502..57952508hg38UCSC Ensembl
Outerchr16:57952478..57952532hg38UCSC Ensembl
chr16:57986394..57986424hg19UCSC Ensembl
Innerchr16:57986406..57986412hg19UCSC Ensembl
Outerchr16:57986382..57986436hg19UCSC Ensembl
chr16:56543895..56543925hg18UCSC Ensembl
Innerchr16:56543907..56543913hg18UCSC Ensembl
Outerchr16:56543883..56543937hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865915
SamplesNA12005
Known GenesCNGB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370975
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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