A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303381



Internal ID14803643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82909495..82909496hg38UCSC Ensembl
Innerchr16:82909445..82909546hg38UCSC Ensembl
Outerchr16:82909444..82909547hg38UCSC Ensembl
chr16:82943100..82943101hg19UCSC Ensembl
Innerchr16:82943050..82943151hg19UCSC Ensembl
Outerchr16:82943049..82943152hg19UCSC Ensembl
chr16:81500601..81500602hg18UCSC Ensembl
Innerchr16:81500652..81500551hg18UCSC Ensembl
Outerchr16:81500550..81500653hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742819, essv7757682, essv7757044, essv7756794
SamplesNA12751, NA18564, NA11992, NA12717
Known GenesCDH13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303381
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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