A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424707



Internal ID14924978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10059319..10059356hg38UCSC Ensembl
Innerchr16:10059335..10059340hg38UCSC Ensembl
Outerchr16:10059298..10059377hg38UCSC Ensembl
chr16:10153176..10153213hg19UCSC Ensembl
Innerchr16:10153192..10153197hg19UCSC Ensembl
Outerchr16:10153155..10153234hg19UCSC Ensembl
chr16:10060677..10060714hg18UCSC Ensembl
Innerchr16:10060698..10060693hg18UCSC Ensembl
Outerchr16:10060656..10060735hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970102, essv8970106, essv8970104, essv8970107, essv8970105
SamplesNA19114, NA18508, NA18522, NA18510, NA18853
Known GenesGRIN2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424707
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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