A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345183



Internal ID14845450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10059330..10059342hg38UCSC Ensembl
Innerchr16:10059321..10059351hg38UCSC Ensembl
Outerchr16:10059309..10059360hg38UCSC Ensembl
chr16:10153187..10153199hg19UCSC Ensembl
Innerchr16:10153178..10153208hg19UCSC Ensembl
Outerchr16:10153166..10153217hg19UCSC Ensembl
chr16:10060688..10060700hg18UCSC Ensembl
Innerchr16:10060709..10060679hg18UCSC Ensembl
Outerchr16:10060667..10060718hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673299, essv8673297
SamplesNA19239, NA19240
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345183
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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