A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9e209



Internal ID20126399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52294216..52390216hg38UCSC Ensembl
chr12:52688000..52784000hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3896001
hg1996001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2857569, esv2888235
SamplesHuRef
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)dgv9e209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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