A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3404617



Internal ID14904893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82794356..82794367hg38UCSC Ensembl
Innerchr16:82794346..82794374hg38UCSC Ensembl
Outerchr16:82794335..82794385hg38UCSC Ensembl
chr16:82827961..82827972hg19UCSC Ensembl
Innerchr16:82827951..82827979hg19UCSC Ensembl
Outerchr16:82827940..82827990hg19UCSC Ensembl
chr16:81385462..81385473hg18UCSC Ensembl
Innerchr16:81385480..81385452hg18UCSC Ensembl
Outerchr16:81385441..81385491hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38255
hg19255
hg18255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970794, essv8970810, essv8970793, essv8970801, essv8970808, essv8970795, essv8970820, essv8970811, essv8970813, essv8970806, essv8970805, essv8970819, essv8970802, essv8970812, essv8970816, essv8970796, essv8970790, essv8970804, essv8970797, essv8970815, essv8970791, essv8970800, essv8970822, essv8970807, essv8970818, essv8970798, essv8970821, essv8970809, essv8970817, essv8970799
SamplesNA18964, NA12043, NA12249, NA12750, NA11918, NA10847, NA18948, NA12828, NA12776, NA07051, NA12287, NA11919, NA12763, NA11994, NA18960, NA07357, NA18592, NA18959, NA11831, NA11894, NA18593, NA12144, NA12716, NA18961, NA18562, NA12156, NA11830, NA11992, NA18532, NA18980
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3404617
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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