A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332949



Internal ID14833222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9922315..9922324hg38UCSC Ensembl
Innerchr16:9922296..9922343hg38UCSC Ensembl
Outerchr16:9922287..9922352hg38UCSC Ensembl
chr16:10016172..10016181hg19UCSC Ensembl
Innerchr16:10016153..10016200hg19UCSC Ensembl
Outerchr16:10016144..10016209hg19UCSC Ensembl
chr16:9923673..9923682hg18UCSC Ensembl
Innerchr16:9923701..9923654hg18UCSC Ensembl
Outerchr16:9923645..9923710hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865856
SamplesNA12005
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332949
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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