A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306511



Internal ID15153459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30996702..30996703hg38UCSC Ensembl
Innerchr16:30996680..30996725hg38UCSC Ensembl
Outerchr16:30996679..30996726hg38UCSC Ensembl
chr16:31008023..31008024hg19UCSC Ensembl
Innerchr16:31008001..31008046hg19UCSC Ensembl
Outerchr16:31008000..31008047hg19UCSC Ensembl
chr16:30915524..30915525hg18UCSC Ensembl
Innerchr16:30915547..30915502hg18UCSC Ensembl
Outerchr16:30915501..30915548hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766583
SamplesNA12814
Known GenesSTX1B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306511
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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