A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305093



Internal ID14805355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83374702..83374703hg38UCSC Ensembl
Innerchr16:83374680..83374725hg38UCSC Ensembl
Outerchr16:83374679..83374726hg38UCSC Ensembl
chr16:83408307..83408308hg19UCSC Ensembl
Innerchr16:83408285..83408330hg19UCSC Ensembl
Outerchr16:83408284..83408331hg19UCSC Ensembl
chr16:81965808..81965809hg18UCSC Ensembl
Innerchr16:81965831..81965786hg18UCSC Ensembl
Outerchr16:81965785..81965832hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7767006
SamplesNA11881
Known GenesCDH13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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