A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7127358



Internal ID10405640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70371324..70371560hg38UCSC Ensembl
Outerchr11:70217430..70217666hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2857791
Supporting Variants
SamplesHuRef
Known GenesPPFIA1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7127358
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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