A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7124914



Internal ID10056510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31940584..31940911hg38UCSC Ensembl
Outerchr18:29520547..29520874hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2855347
Supporting Variants
SamplesHuRef
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7124914
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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