A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308847



Internal ID15155796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12198355..12198356hg38UCSC Ensembl
Innerchr16:12198338..12198373hg38UCSC Ensembl
Outerchr16:12198337..12198374hg38UCSC Ensembl
chr16:12292212..12292213hg19UCSC Ensembl
Innerchr16:12292195..12292230hg19UCSC Ensembl
Outerchr16:12292194..12292231hg19UCSC Ensembl
chr16:12199713..12199714hg18UCSC Ensembl
Innerchr16:12199731..12199696hg18UCSC Ensembl
Outerchr16:12199695..12199732hg18UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842710, essv7841767
SamplesNA19238, NA19240
Known GenesSNX29
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308847
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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