A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306176



Internal ID14806438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82794347..82794348hg38UCSC Ensembl
Innerchr16:82794330..82794365hg38UCSC Ensembl
Outerchr16:82794329..82794366hg38UCSC Ensembl
chr16:82827952..82827953hg19UCSC Ensembl
Innerchr16:82827935..82827970hg19UCSC Ensembl
Outerchr16:82827934..82827971hg19UCSC Ensembl
chr16:81385453..81385454hg18UCSC Ensembl
Innerchr16:81385471..81385436hg18UCSC Ensembl
Outerchr16:81385435..81385472hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7773229, essv7787850, essv7771983, essv7777018, essv7820015, essv7794717, essv7808438, essv7772645, essv7830804, essv7777356, essv7785203, essv7793894, essv7822949, essv7833460, essv7801876, essv7826981, essv7786507, essv7783564, essv7835114, essv7776604, essv7814890, essv7771169, essv7797514, essv7819034, essv7795634, essv7775942, essv7808667, essv7813913, essv7816577, essv7811622, essv7818863
SamplesNA11830, NA18592, NA18980, NA18959, NA12750, NA07357, NA18960, NA11992, NA11918, NA07347, NA12287, NA18964, NA12156, NA11994, NA12828, NA11831, NA10847, NA18948, NA11919, NA11894, NA12249, NA18532, NA12144, NA18593, NA12043, NA12716, NA18961, NA07051, NA12763, NA18562, NA12776
Known GenesCDH13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306176
Frequency
Sample Size185
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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